Canonical Allele Identifier: CA2024185
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2535420
dbSNP Id: rs199683014

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565462C>T , CM000664.2:g.189565462C>T GRCh38
NC_000002.11:g.190430188C>T , CM000664.1:g.190430188C>T GRCh37
NC_000002.10:g.190138433C>T NCBI36
NG_009027.1:g.20350G>A , LRG_837:g.20350G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.652G>A MANE Select ENSP00000261024.3:p.Val218Met
ENST00000261024.6:c.652G>A ENSP00000261024.2:p.Val218Met
NM_014585.5:c.652G>A , LRG_837t1:c.652G>A NP_055400.1:p.Val218Met
XM_005246505.1:c.532G>A XP_005246562.1:p.Val178Met
XM_005246505.2:c.532G>A XP_005246562.1:p.Val178Met
XM_017003938.2:c.532G>A XP_016859427.1:p.Val178Met
NM_014585.6:c.652G>A MANE Select NP_055400.1:p.Val218Met