Canonical Allele Identifier: CA145448

Gene: SLC35A3

Linked Data

• ClinVar Variation Id: 89030
• ClinVar RCV Id: RCV000074504 ; RCV001588895
• dbSNP Id: rs141952252
• ExAC: 1:100483370 A / G
• gnomAD v2: 1-100483370-A-G
• gnomAD v3: 1-100017814-A-G
• gnomAD v4: 1-100017814-A-G
• MyVariant Identifiers: chr1:g.100483370A>G (hg19) ; chr1:g.100017814A>G (hg38)
• PubMed: PMID:24031089

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100017814A>G , CM000663.2:g.100017814A>G	GRCh38
NC_000001.10:g.100483370A>G , CM000663.1:g.100483370A>G	GRCh37
NC_000001.9:g.100255958A>G	NCBI36
NG_033857.1:g.53026A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370153.6:c.1012A>G	ENSP00000359172.1:p.Ser338Gly
ENST00000370155.9:c.*692A>G	ENSP00000359174.5:n.*692A>G
ENST00000427993.7:c.886A>G	ENSP00000414947.2:p.Ser296Gly
ENST00000465289.6:c.886A>G	ENSP00000418527.2:p.Ser296Gly
ENST00000533028.8:c.886A>G MANE Select	ENSP00000433849.1:p.Ser296Gly
ENST00000638336.1:c.635-4572A>G	ENSP00000491145.1:n.635-4572A>G
ENST00000638338.1:c.753+2394A>G	ENSP00000491533.1:n.753+2394A>G
ENST00000638371.1:c.886A>G	ENSP00000491146.1:p.Ser296Gly
ENST00000638779.1:c.763A>G	ENSP00000492662.1:p.Arg255Gly
ENST00000638792.1:c.753+2394A>G	ENSP00000491854.1:n.753+2394A>G
ENST00000638968.1:c.886A>G	ENSP00000491405.1:p.Arg296Gly
ENST00000639037.1:c.753+2394A>G	ENSP00000492745.1:n.753+2394A>G
ENST00000639040.1:c.634+6281A>G	ENSP00000492034.1:n.634+6281A>G
ENST00000639088.1:c.*488A>G	ENSP00000492308.1:n.*488A>G
ENST00000639148.1:c.*398A>G	ENSP00000491383.1:n.*398A>G
ENST00000639171.1:c.634+6281A>G	ENSP00000492729.1:n.634+6281A>G
ENST00000639221.1:c.630+2394A>G	ENSP00000492169.1:n.630+2394A>G
ENST00000639807.1:c.763A>G	ENSP00000490964.1:p.Arg255Gly
ENST00000639994.1:c.886A>G	ENSP00000492135.1:p.Arg296Gly
ENST00000640178.1:c.*488A>G	ENSP00000491771.1:n.*488A>G
ENST00000640238.1:c.*692A>G	ENSP00000491093.1:n.*692A>G
ENST00000640357.1:c.886A>G	ENSP00000491367.1:p.Ser296Gly
ENST00000640360.1:c.*237-4572A>G	ENSP00000491598.1:n.*237-4572A>G
ENST00000640600.1:c.886A>G	ENSP00000491789.1:p.Arg296Gly
ENST00000640715.1:c.753+2394A>G	ENSP00000492801.1:n.753+2394A>G
ENST00000640726.1:c.*454A>G	ENSP00000492128.1:n.*454A>G
ENST00000640732.1:c.763A>G	ENSP00000492771.1:p.Ser255Gly
ENST00000370153.5:c.1012A>G	ENSP00000359172.1:p.Ser338Gly
ENST00000370155.7:c.886A>G	ENSP00000359174.3:p.Ser296Gly
ENST00000370156.3:n.843A>G
ENST00000427993.6:c.886A>G	ENSP00000414947.2:p.Ser296Gly
ENST00000465289.5:c.635-4572A>G	ENSP00000418527.1:n.635-4572A>G
ENST00000533028.5:c.886A>G	ENSP00000433849.1:p.Ser296Gly
NM_001271684.1:c.635-4572A>G	NP_001258613.1:n.635-4572A>G
NM_001271685.1:c.1012A>G	NP_001258614.1:p.Ser338Gly
NM_012243.2:c.886A>G	NP_036375.1:p.Ser296Gly
XM_005270691.3:c.886A>G	XP_005270748.1:p.Ser296Gly
XM_005270693.2:c.496A>G	XP_005270750.1:p.Ser166Gly
XM_011541135.1:c.889A>G	XP_011539437.1:p.Ser297Gly
XM_011541136.1:c.886A>G	XP_011539438.1:p.Ser296Gly
XM_011541137.1:c.879+2394A>G	XP_011539439.1:n.879+2394A>G
XM_011541138.1:c.761-4572A>G	XP_011539440.1:n.761-4572A>G
XR_947626.1:n.269+19916T>C
XR_947627.1:n.269+19916T>C
XR_947628.1:n.269+19916T>C
XR_947629.1:n.269+19916T>C
XR_947630.1:n.269+19916T>C
XR_947631.1:n.269+19916T>C
XR_947632.1:n.269+19916T>C
XR_947633.1:n.269+19916T>C
XR_947634.1:n.269+19916T>C
XR_947635.1:n.269+19916T>C
XM_005270691.5:c.886A>G	XP_005270748.1:p.Ser296Gly
XM_011541135.3:c.889A>G	XP_011539437.1:p.Ser297Gly
XM_011541136.2:c.886A>G	XP_011539438.1:p.Ser296Gly
XM_011541137.3:c.879+2394A>G	XP_011539439.1:n.879+2394A>G
XM_011541138.3:c.761-4572A>G	XP_011539440.1:n.761-4572A>G
XM_017000869.2:c.763A>G	XP_016856358.1:p.Ser255Gly
XM_017000870.2:c.753+2394A>G	XP_016856359.1:n.753+2394A>G
XM_017000871.2:c.630+2394A>G	XP_016856360.1:n.630+2394A>G
NM_012243.3:c.886A>G MANE Select	NP_036375.1:p.Ser296Gly
NM_001271684.2:c.635-4572A>G	NP_001258613.1:n.635-4572A>G
NM_001271685.2:c.1012A>G	NP_001258614.1:p.Ser338Gly