Canonical Allele Identifier: CA349989821
Gene: SLC40A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189575272A>G , CM000664.2:g.189575272A>G GRCh38
NC_000002.11:g.190439998A>G , CM000664.1:g.190439998A>G GRCh37
NC_000002.10:g.190148243A>G NCBI36
NG_009027.1:g.10540T>C , LRG_837:g.10540T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.160T>C MANE Select ENSP00000261024.3:p.Tyr54His
ENST00000261024.6:c.160T>C ENSP00000261024.2:p.Tyr54His
ENST00000418714.1:n.601T>C
ENST00000427241.5:c.160T>C ENSP00000390005.1:p.Tyr54His
ENST00000455320.5:c.160T>C ENSP00000413549.1:p.Tyr54His
ENST00000479598.5:n.441T>C
NM_014585.5:c.160T>C , LRG_837t1:c.160T>C NP_055400.1:p.Tyr54His
XM_005246505.1:c.40T>C XP_005246562.1:p.Tyr14His
XM_005246505.2:c.40T>C XP_005246562.1:p.Tyr14His
XM_017003938.2:c.40T>C XP_016859427.1:p.Tyr14His
NM_014585.6:c.160T>C MANE Select NP_055400.1:p.Tyr54His