Canonical Allele Identifier: CA349988726
Gene: SLC40A1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.652G>T MANE Select ENSP00000261024.3:p.Val218Leu
ENST00000261024.6:c.652G>T ENSP00000261024.2:p.Val218Leu
NM_014585.5:c.652G>T , LRG_837t1:c.652G>T NP_055400.1:p.Val218Leu
XM_005246505.1:c.532G>T XP_005246562.1:p.Val178Leu
XM_005246505.2:c.532G>T XP_005246562.1:p.Val178Leu
XM_017003938.2:c.532G>T XP_016859427.1:p.Val178Leu
NM_014585.6:c.652G>T MANE Select NP_055400.1:p.Val218Leu