Canonical Allele Identifier: CA430367494
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190439903C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189575177C>T , CM000664.2:g.189575177C>T GRCh38
NC_000002.11:g.190439903C>T , CM000664.1:g.190439903C>T GRCh37
NC_000002.10:g.190148148C>T NCBI36
NG_009027.1:g.10635G>A , LRG_837:g.10635G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.255G>A MANE Select ENSP00000261024.3:p.Lys85=
ENST00000261024.6:c.255G>A ENSP00000261024.2:p.Lys85=
ENST00000418714.1:n.696G>A
ENST00000427241.5:c.255G>A ENSP00000390005.1:p.Lys85=
ENST00000479598.5:n.536G>A
NM_014585.5:c.255G>A , LRG_837t1:c.255G>A NP_055400.1:p.Lys85=
XM_005246505.1:c.135G>A XP_005246562.1:p.Lys45=
XM_005246505.2:c.135G>A XP_005246562.1:p.Lys45=
XM_017003938.2:c.135G>A XP_016859427.1:p.Lys45=
NM_014585.6:c.255G>A MANE Select NP_055400.1:p.Lys85=