Canonical Allele Identifier: CA349988340
Gene: SLC40A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564163C>T , CM000664.2:g.189564163C>T GRCh38
NC_000002.11:g.190428889C>T , CM000664.1:g.190428889C>T GRCh37
NC_000002.10:g.190137134C>T NCBI36
NG_009027.1:g.21649G>A , LRG_837:g.21649G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.823G>A MANE Select ENSP00000261024.3:p.Glu275Lys
ENST00000261024.6:c.823G>A ENSP00000261024.2:p.Glu275Lys
NM_014585.5:c.823G>A , LRG_837t1:c.823G>A NP_055400.1:p.Glu275Lys
XM_005246505.1:c.703G>A XP_005246562.1:p.Glu235Lys
XM_005246505.2:c.703G>A XP_005246562.1:p.Glu235Lys
XM_017003938.2:c.703G>A XP_016859427.1:p.Glu235Lys
NM_014585.6:c.823G>A MANE Select NP_055400.1:p.Glu275Lys