Canonical Allele Identifier: CA349988578
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190430118T>G (hg19) chr2:g.189565392T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565392T>G , CM000664.2:g.189565392T>G GRCh38
NC_000002.11:g.190430118T>G , CM000664.1:g.190430118T>G GRCh37
NC_000002.10:g.190138363T>G NCBI36
NG_009027.1:g.20420A>C , LRG_837:g.20420A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.722A>C MANE Select ENSP00000261024.3:p.Glu241Ala
ENST00000261024.6:c.722A>C ENSP00000261024.2:p.Glu241Ala
NM_014585.5:c.722A>C , LRG_837t1:c.722A>C NP_055400.1:p.Glu241Ala
XM_005246505.1:c.602A>C XP_005246562.1:p.Glu201Ala
XM_005246505.2:c.602A>C XP_005246562.1:p.Glu201Ala
XM_017003938.2:c.602A>C XP_016859427.1:p.Glu201Ala
NM_014585.6:c.722A>C MANE Select NP_055400.1:p.Glu241Ala
Search 100 bp 5'
Search 100 bp 3'