Canonical Allele Identifier: CA402328895

Gene: SLC14A1

Linked Data

• dbSNP Id: rs2047297579
• gnomAD v4: 18-45739576-G-A
• MyVariant Identifiers: chr18:g.43319541G>A (hg19) ; chr18:g.45739576G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739576G>A , CM000680.2:g.45739576G>A	GRCh38
NC_000018.9:g.43319541G>A , CM000680.1:g.43319541G>A	GRCh37
NC_000018.8:g.41573539G>A	NCBI36
NG_011775.3:g.20450G>A
NG_011775.4:g.57552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.860G>A MANE Select	ENSP00000318546.4:p.Gly287Asp
ENST00000502059.7:c.*213G>A	ENSP00000442180.2:n.*213G>A
ENST00000586951.6:c.860G>A	ENSP00000465702.2:p.Gly287Asp
ENST00000588179.6:c.*190G>A	ENSP00000467898.2:n.*190G>A
ENST00000589322.7:c.464G>A	ENSP00000466273.3:p.Gly155Asp
ENST00000321925.8:c.860G>A	ENSP00000318546.4:p.Gly287Asp
ENST00000402943.6:c.545G>A	ENSP00000385320.2:p.Gly182Asp
ENST00000415427.7:c.1028G>A	ENSP00000412309.2:p.Gly343Asp
ENST00000436407.7:c.1028G>A	ENSP00000390637.2:p.Gly343Asp
ENST00000502059.6:c.536G>A	ENSP00000442180.1:p.Gly179Asp
ENST00000535474.5:c.464G>A	ENSP00000441998.1:p.Gly155Asp
ENST00000586142.5:c.860G>A	ENSP00000470476.1:p.Gly287Asp
ENST00000586854.1:n.293G>A
ENST00000588179.5:c.*190G>A	ENSP00000467898.2:n.*190G>A
ENST00000589322.6:c.464G>A	ENSP00000466273.2:p.Gly155Asp
ENST00000589700.5:c.712G>A	ENSP00000465044.1:p.Val238Ile
ENST00000590377.1:c.386+2928G>A
ENST00000591541.2:n.75G>A
ENST00000619403.4:c.712G>A	ENSP00000479595.1:p.Val238Ile
NM_001128588.3:c.1028G>A	NP_001122060.3:p.Gly343Asp
NM_001146036.2:c.860G>A	NP_001139508.2:p.Gly287Asp
NM_001146037.1:c.1028G>A	NP_001139509.1:p.Gly343Asp
NM_001308278.1:c.545G>A	NP_001295207.1:p.Gly182Asp
NM_001308279.1:c.464G>A	NP_001295208.1:p.Gly155Asp
NM_015865.6:c.860G>A	NP_056949.4:p.Gly287Asp
XM_005258329.1:c.1028G>A	XP_005258386.1:p.Gly343Asp
XM_005258333.1:c.464G>A	XP_005258390.1:p.Gly155Asp
XM_006722526.2:c.965G>A	XP_006722589.1:p.Gly322Asp
XM_011526141.1:c.965G>A	XP_011524443.1:p.Gly322Asp
XM_011526142.1:c.965G>A	XP_011524444.1:p.Gly322Asp
XM_011526143.1:c.1028G>A	XP_011524445.1:p.Gly343Asp
XM_011526144.1:c.1028G>A	XP_011524446.1:p.Gly343Asp
XR_935425.1:n.680-1982C>T
NM_015865.7:c.860G>A MANE Select	NP_056949.4:p.Gly287Asp
XM_006722526.3:c.965G>A	XP_006722589.1:p.Gly322Asp
XM_024451238.1:c.860G>A	XP_024307006.1:p.Gly287Asp
XR_001753266.1:n.1226G>A
XR_001753561.1:n.529-1982C>T
XR_935423.2:n.698-1982C>T
NM_001128588.4:c.1028G>A	NP_001122060.3:p.Gly343Asp
NM_001146036.3:c.860G>A	NP_001139508.2:p.Gly287Asp
NM_001308278.2:c.545G>A	NP_001295207.1:p.Gly182Asp
NM_001308279.2:c.464G>A	NP_001295208.1:p.Gly155Asp