Canonical Allele Identifier: CA1315655698
Gene: SLC40A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565359T= , CM000664.2:g.189565359T= GRCh38
NC_000002.11:g.190430085T= , CM000664.1:g.190430085T= GRCh37
NC_000002.10:g.190138330T= NCBI36
NG_009027.1:g.20453A= , LRG_837:g.20453A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.755A= MANE Select ENSP00000261024.3:p.His252=
ENST00000261024.6:c.755A= ENSP00000261024.2:p.His252=
NM_014585.5:c.755A= , LRG_837t1:c.755A= NP_055400.1:p.His252=
XM_005246505.1:c.635A= XP_005246562.1:p.His212=
XM_005246505.2:c.635A= XP_005246562.1:p.His212=
XM_017003938.2:c.635A= XP_016859427.1:p.His212=
NM_014585.6:c.755A= MANE Select NP_055400.1:p.His252=