Canonical Allele Identifier: CA349989097
Gene: SLC40A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189571741G>A , CM000664.2:g.189571741G>A GRCh38
NC_000002.11:g.190436467G>A , CM000664.1:g.190436467G>A GRCh37
NC_000002.10:g.190144712G>A NCBI36
NG_009027.1:g.14071C>T , LRG_837:g.14071C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.488C>T MANE Select ENSP00000261024.3:p.Ala163Val
ENST00000261024.6:c.488C>T ENSP00000261024.2:p.Ala163Val
ENST00000427241.5:c.488C>T ENSP00000390005.1:p.Ala163Val
NM_014585.5:c.488C>T , LRG_837t1:c.488C>T NP_055400.1:p.Ala163Val
XM_005246505.1:c.368C>T XP_005246562.1:p.Ala123Val
XM_005246505.2:c.368C>T XP_005246562.1:p.Ala123Val
XM_017003938.2:c.368C>T XP_016859427.1:p.Ala123Val
NM_014585.6:c.488C>T MANE Select NP_055400.1:p.Ala163Val