Canonical Allele Identifier: CA117529
Gene: SLC40A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5418
ClinVar RCV Id: RCV000005751
dbSNP Id: rs104893664

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564186C>T , CM000664.2:g.189564186C>T GRCh38
NC_000002.11:g.190428912C>T , CM000664.1:g.190428912C>T GRCh37
NC_000002.10:g.190137157C>T NCBI36
NG_009027.1:g.21626G>A , LRG_837:g.21626G>A

Transcript Alleles

HGVS Amino-acid change
NM_014585.5:c.800G>A , LRG_837t1:c.800G>A NP_055400.1:p.Gly267Asp
XM_005246505.1:c.680G>A XP_005246562.1:p.Gly227Asp
XM_005246505.2:c.680G>A XP_005246562.1:p.Gly227Asp
XM_017003938.2:c.680G>A XP_016859427.1:p.Gly227Asp
ENST00000261024.6:c.800G>A ENSP00000261024.2:p.Gly267Asp