Canonical Allele Identifier: CA430502405
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190430081T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565355T>C , CM000664.2:g.189565355T>C GRCh38
NC_000002.11:g.190430081T>C , CM000664.1:g.190430081T>C GRCh37
NC_000002.10:g.190138326T>C NCBI36
NG_009027.1:g.20457A>G , LRG_837:g.20457A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.759A>G MANE Select ENSP00000261024.3:p.Lys253=
ENST00000261024.6:c.759A>G ENSP00000261024.2:p.Lys253=
NM_014585.5:c.759A>G , LRG_837t1:c.759A>G NP_055400.1:p.Lys253=
XM_005246505.1:c.639A>G XP_005246562.1:p.Lys213=
XM_005246505.2:c.639A>G XP_005246562.1:p.Lys213=
XM_017003938.2:c.639A>G XP_016859427.1:p.Lys213=
NM_014585.6:c.759A>G MANE Select NP_055400.1:p.Lys253=
Search 100 bp 5'
Search 100 bp 3'