Canonical Allele Identifier: CA117527
Gene: SLC40A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5417
ClinVar RCV Id: RCV000005750
dbSNP Id: rs104893673

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189575193C>A , CM000664.2:g.189575193C>A GRCh38
NC_000002.10:g.190148164C>A NCBI36
NC_000002.11:g.190439919C>A , CM000664.1:g.190439919C>A GRCh37
NG_009027.1:g.10619G>T , LRG_837:g.10619G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261024.6:c.239G>T ENSP00000261024.2:p.Gly80Val
ENST00000418714.1:n.680G>T
ENST00000427241.5:c.239G>T ENSP00000390005.1:p.Gly80Val
ENST00000479598.5:n.520G>T
NM_014585.5:c.239G>T , LRG_837t1:c.239G>T NP_055400.1:p.Gly80Val
XM_005246505.1:c.119G>T XP_005246562.1:p.Gly40Val
XM_005246505.2:c.119G>T
XM_017003938.2:c.119G>T XP_016859427.1:p.Gly40Val