Canonical Allele Identifier: CA430502991
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190428671T>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563945T>G , CM000664.2:g.189563945T>G GRCh38
NC_000002.11:g.190428671T>G , CM000664.1:g.190428671T>G GRCh37
NC_000002.10:g.190136916T>G NCBI36
NG_009027.1:g.21867A>C , LRG_837:g.21867A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261024.7:c.1041A>C MANE Select ENSP00000261024.3:p.Gly347=
ENST00000261024.6:c.1041A>C ENSP00000261024.2:p.Gly347=
NM_014585.5:c.1041A>C , LRG_837t1:c.1041A>C NP_055400.1:p.Gly347=
XM_005246505.1:c.921A>C XP_005246562.1:p.Gly307=
XM_005246505.2:c.921A>C XP_005246562.1:p.Gly307=
XM_017003938.2:c.921A>C XP_016859427.1:p.Gly307=
NM_014585.6:c.1041A>C MANE Select NP_055400.1:p.Gly347=
Search 100 bp 5'
Search 100 bp 3'