Canonical Allele Identifier: CA349988663
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs2030906600

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565434T>C , CM000664.2:g.189565434T>C GRCh38
NC_000002.11:g.190430160T>C , CM000664.1:g.190430160T>C GRCh37
NC_000002.10:g.190138405T>C NCBI36
NG_009027.1:g.20378A>G , LRG_837:g.20378A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.680A>G MANE Select ENSP00000261024.3:p.Tyr227Cys
ENST00000261024.6:c.680A>G ENSP00000261024.2:p.Tyr227Cys
NM_014585.5:c.680A>G , LRG_837t1:c.680A>G NP_055400.1:p.Tyr227Cys
XM_005246505.1:c.560A>G XP_005246562.1:p.Tyr187Cys
XM_005246505.2:c.560A>G XP_005246562.1:p.Tyr187Cys
XM_017003938.2:c.560A>G XP_016859427.1:p.Tyr187Cys
NM_014585.6:c.680A>G MANE Select NP_055400.1:p.Tyr227Cys