Canonical Allele Identifier: CA430502408
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190430089A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565363A>G , CM000664.2:g.189565363A>G GRCh38
NC_000002.11:g.190430089A>G , CM000664.1:g.190430089A>G GRCh37
NC_000002.10:g.190138334A>G NCBI36
NG_009027.1:g.20449T>C , LRG_837:g.20449T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.751T>C MANE Select ENSP00000261024.3:p.Leu251=
ENST00000261024.6:c.751T>C ENSP00000261024.2:p.Leu251=
NM_014585.5:c.751T>C , LRG_837t1:c.751T>C NP_055400.1:p.Leu251=
XM_005246505.1:c.631T>C XP_005246562.1:p.Leu211=
XM_005246505.2:c.631T>C XP_005246562.1:p.Leu211=
XM_017003938.2:c.631T>C XP_016859427.1:p.Leu211=
NM_014585.6:c.751T>C MANE Select NP_055400.1:p.Leu251=