Canonical Allele Identifier: CA349987198
Gene: SLC40A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563627G>C , CM000664.2:g.189563627G>C GRCh38
NC_000002.11:g.190428353G>C , CM000664.1:g.190428353G>C GRCh37
NC_000002.10:g.190136598G>C NCBI36
NG_009027.1:g.22185C>G , LRG_837:g.22185C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1359C>G MANE Select ENSP00000261024.3:p.Ile453Met
ENST00000261024.6:c.1359C>G ENSP00000261024.2:p.Ile453Met
NM_014585.5:c.1359C>G , LRG_837t1:c.1359C>G NP_055400.1:p.Ile453Met
XM_005246505.1:c.1239C>G XP_005246562.1:p.Ile413Met
XM_005246505.2:c.1239C>G XP_005246562.1:p.Ile413Met
XM_017003938.2:c.1239C>G XP_016859427.1:p.Ile413Met
NM_014585.6:c.1359C>G MANE Select NP_055400.1:p.Ile453Met