Canonical Allele Identifier: CA430503031
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190428704T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563978T>A , CM000664.2:g.189563978T>A GRCh38
NC_000002.11:g.190428704T>A , CM000664.1:g.190428704T>A GRCh37
NC_000002.10:g.190136949T>A NCBI36
NG_009027.1:g.21834A>T , LRG_837:g.21834A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1008A>T MANE Select ENSP00000261024.3:p.Gly336=
ENST00000261024.6:c.1008A>T ENSP00000261024.2:p.Gly336=
NM_014585.5:c.1008A>T , LRG_837t1:c.1008A>T NP_055400.1:p.Gly336=
XM_005246505.1:c.888A>T XP_005246562.1:p.Gly296=
XM_005246505.2:c.888A>T XP_005246562.1:p.Gly296=
XM_017003938.2:c.888A>T XP_016859427.1:p.Gly296=
NM_014585.6:c.1008A>T MANE Select NP_055400.1:p.Gly336=