Canonical Allele Identifier: CA430502545

Gene: SLC40A1

Linked Data

• MyVariant Identifiers: chr2:g.190430162A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565436A>G , CM000664.2:g.189565436A>G	GRCh38
NC_000002.11:g.190430162A>G , CM000664.1:g.190430162A>G	GRCh37
NC_000002.10:g.190138407A>G	NCBI36
NG_009027.1:g.20376T>C , LRG_837:g.20376T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.678T>C MANE Select	ENSP00000261024.3:p.Val226=
ENST00000261024.6:c.678T>C	ENSP00000261024.2:p.Val226=
NM_014585.5:c.678T>C , LRG_837t1:c.678T>C	NP_055400.1:p.Val226=
XM_005246505.1:c.558T>C	XP_005246562.1:p.Val186=
XM_005246505.2:c.558T>C	XP_005246562.1:p.Val186=
XM_017003938.2:c.558T>C	XP_016859427.1:p.Val186=
NM_014585.6:c.678T>C MANE Select	NP_055400.1:p.Val226=