Canonical Allele Identifier: CA349987271
Gene: SLC40A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563662C>G , CM000664.2:g.189563662C>G GRCh38
NC_000002.11:g.190428388C>G , CM000664.1:g.190428388C>G GRCh37
NC_000002.10:g.190136633C>G NCBI36
NG_009027.1:g.22150G>C , LRG_837:g.22150G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1324G>C MANE Select ENSP00000261024.3:p.Val442Leu
ENST00000261024.6:c.1324G>C ENSP00000261024.2:p.Val442Leu
NM_014585.5:c.1324G>C , LRG_837t1:c.1324G>C NP_055400.1:p.Val442Leu
XM_005246505.1:c.1204G>C XP_005246562.1:p.Val402Leu
XM_005246505.2:c.1204G>C XP_005246562.1:p.Val402Leu
XM_017003938.2:c.1204G>C XP_016859427.1:p.Val402Leu
NM_014585.6:c.1324G>C MANE Select NP_055400.1:p.Val442Leu