Canonical Allele Identifier: CA349988798
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190430220A>T (hg19) chr2:g.189565494A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565494A>T , CM000664.2:g.189565494A>T GRCh38
NC_000002.11:g.190430220A>T , CM000664.1:g.190430220A>T GRCh37
NC_000002.10:g.190138465A>T NCBI36
NG_009027.1:g.20318T>A , LRG_837:g.20318T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.620T>A MANE Select ENSP00000261024.3:p.Phe207Tyr
ENST00000261024.6:c.620T>A ENSP00000261024.2:p.Phe207Tyr
NM_014585.5:c.620T>A , LRG_837t1:c.620T>A NP_055400.1:p.Phe207Tyr
XM_005246505.1:c.500T>A XP_005246562.1:p.Phe167Tyr
XM_005246505.2:c.500T>A XP_005246562.1:p.Phe167Tyr
XM_017003938.2:c.500T>A XP_016859427.1:p.Phe167Tyr
NM_014585.6:c.620T>A MANE Select NP_055400.1:p.Phe207Tyr
Search 100 bp 5'
Search 100 bp 3'