Canonical Allele Identifier: CA62904041

Gene: SLC40A1

Linked Data

• dbSNP Id: rs766231231
• gnomAD v4: 2-189575239-C-T
• MyVariant Identifiers: chr2:g.190439965C>T (hg19) ; chr2:g.189575239C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575239C>T , CM000664.2:g.189575239C>T	GRCh38
NC_000002.11:g.190439965C>T , CM000664.1:g.190439965C>T	GRCh37
NC_000002.10:g.190148210C>T	NCBI36
NG_009027.1:g.10573G>A , LRG_837:g.10573G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.193G>A MANE Select	ENSP00000261024.3:p.Gly65Arg
ENST00000261024.6:c.193G>A	ENSP00000261024.2:p.Gly65Arg
ENST00000418714.1:n.634G>A
ENST00000427241.5:c.193G>A	ENSP00000390005.1:p.Gly65Arg
ENST00000479598.5:n.474G>A
NM_014585.5:c.193G>A , LRG_837t1:c.193G>A	NP_055400.1:p.Gly65Arg
XM_005246505.1:c.73G>A	XP_005246562.1:p.Gly25Arg
XM_005246505.2:c.73G>A	XP_005246562.1:p.Gly25Arg
XM_017003938.2:c.73G>A	XP_016859427.1:p.Gly25Arg
NM_014585.6:c.193G>A MANE Select	NP_055400.1:p.Gly65Arg