Canonical Allele Identifier: CA450912212

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 1082189
• ClinVar RCV Id: RCV001398426
• dbSNP Id: rs1367019593
• gnomAD v2: 6-74351603-G-A
• gnomAD v3: 6-73641880-G-A
• gnomAD v4: 6-73641880-G-A
• MyVariant Identifiers: chr6:g.74351603G>A (hg19) ; chr6:g.73641880G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73641880G>A , CM000668.2:g.73641880G>A	GRCh38
NC_000006.11:g.74351603G>A , CM000668.1:g.74351603G>A	GRCh37
NC_000006.10:g.74408324G>A	NCBI36
NG_008272.1:g.17135C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.336C>T MANE Select	ENSP00000348019.5:p.Leu112=
ENST00000355773.5:c.336C>T	ENSP00000348019.5:p.Leu112=
ENST00000481996.1:n.102C>T
NM_012434.4:c.336C>T	NP_036566.1:p.Leu112=
XM_005248710.2:c.285C>T	XP_005248767.1:p.Leu95=
XM_005248711.1:c.138C>T	XP_005248768.1:p.Leu46=
XM_011535750.1:c.336C>T	XP_011534052.1:p.Leu112=
XM_011535751.1:c.336C>T	XP_011534053.1:p.Leu112=
NM_012434.5:c.336C>T MANE Select	NP_036566.1:p.Leu112=
NM_001382629.1:c.105C>T	NP_001369558.1:p.Leu35=
NM_001382630.1:c.336C>T	NP_001369559.1:p.Leu112=
NM_001382631.1:c.357C>T	NP_001369560.1:p.Leu119=
NM_001382632.1:c.336C>T	NP_001369561.1:p.Leu112=
NM_001382633.1:c.336C>T	NP_001369562.1:p.Leu112=
NM_001382634.1:c.336C>T	NP_001369563.1:p.Leu112=
NM_001382635.1:c.336C>T	NP_001369564.1:p.Leu112=
NM_001382636.1:c.105C>T	NP_001369565.1:p.Leu35=