Canonical Allele Identifier: CA117521
Gene: SLC40A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5413
ClinVar RCV Id: RCV000005746
dbSNP Id: rs104893670

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565568C>A , CM000664.2:g.189565568C>A GRCh38
NC_000002.11:g.190430294C>A , CM000664.1:g.190430294C>A GRCh37
NC_000002.10:g.190138539C>A NCBI36
NG_009027.1:g.20244G>T , LRG_837:g.20244G>T

Transcript Alleles

HGVS Amino-acid change
NM_014585.5:c.546G>T , LRG_837t1:c.546G>T NP_055400.1:p.Gln182His
XM_005246505.1:c.426G>T XP_005246562.1:p.Gln142His
XM_005246505.2:c.426G>T
XM_017003938.2:c.426G>T XP_016859427.1:p.Gln142His
ENST00000261024.6:c.546G>T ENSP00000261024.2:p.Gln182His
ENST00000427241.5:c.546G>T ENSP00000390005.1:p.Gln182His