Canonical Allele Identifier: CA349987232
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190428369T>G (hg19) chr2:g.189563643T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563643T>G , CM000664.2:g.189563643T>G GRCh38
NC_000002.11:g.190428369T>G , CM000664.1:g.190428369T>G GRCh37
NC_000002.10:g.190136614T>G NCBI36
NG_009027.1:g.22169A>C , LRG_837:g.22169A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1343A>C MANE Select ENSP00000261024.3:p.Glu448Ala
ENST00000261024.6:c.1343A>C ENSP00000261024.2:p.Glu448Ala
NM_014585.5:c.1343A>C , LRG_837t1:c.1343A>C NP_055400.1:p.Glu448Ala
XM_005246505.1:c.1223A>C XP_005246562.1:p.Glu408Ala
XM_005246505.2:c.1223A>C XP_005246562.1:p.Glu408Ala
XM_017003938.2:c.1223A>C XP_016859427.1:p.Glu408Ala
NM_014585.6:c.1343A>C MANE Select NP_055400.1:p.Glu448Ala
Search 100 bp 5'
Search 100 bp 3'