Canonical Allele Identifier: CA349988700
Gene: SLC40A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565450G>T , CM000664.2:g.189565450G>T GRCh38
NC_000002.11:g.190430176G>T , CM000664.1:g.190430176G>T GRCh37
NC_000002.10:g.190138421G>T NCBI36
NG_009027.1:g.20362C>A , LRG_837:g.20362C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.664C>A MANE Select ENSP00000261024.3:p.Leu222Met
ENST00000261024.6:c.664C>A ENSP00000261024.2:p.Leu222Met
NM_014585.5:c.664C>A , LRG_837t1:c.664C>A NP_055400.1:p.Leu222Met
XM_005246505.1:c.544C>A XP_005246562.1:p.Leu182Met
XM_005246505.2:c.544C>A XP_005246562.1:p.Leu182Met
XM_017003938.2:c.544C>A XP_016859427.1:p.Leu182Met
NM_014585.6:c.664C>A MANE Select NP_055400.1:p.Leu222Met