Canonical Allele Identifier: CA430367357
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190436496T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189571770T>C , CM000664.2:g.189571770T>C GRCh38
NC_000002.11:g.190436496T>C , CM000664.1:g.190436496T>C GRCh37
NC_000002.10:g.190144741T>C NCBI36
NG_009027.1:g.14042A>G , LRG_837:g.14042A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261024.7:c.459A>G MANE Select ENSP00000261024.3:p.Thr153=
ENST00000261024.6:c.459A>G ENSP00000261024.2:p.Thr153=
ENST00000427241.5:c.459A>G ENSP00000390005.1:p.Thr153=
NM_014585.5:c.459A>G , LRG_837t1:c.459A>G NP_055400.1:p.Thr153=
XM_005246505.1:c.339A>G XP_005246562.1:p.Thr113=
XM_005246505.2:c.339A>G XP_005246562.1:p.Thr113=
XM_017003938.2:c.339A>G XP_016859427.1:p.Thr113=
NM_014585.6:c.459A>G MANE Select NP_055400.1:p.Thr153=