Canonical Allele Identifier: CA349988652

Gene: SLC40A1

Linked Data

• MyVariant Identifiers: chr2:g.190430156C>A (hg19) ; chr2:g.189565430C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565430C>A , CM000664.2:g.189565430C>A	GRCh38
NC_000002.11:g.190430156C>A , CM000664.1:g.190430156C>A	GRCh37
NC_000002.10:g.190138401C>A	NCBI36
NG_009027.1:g.20382G>T , LRG_837:g.20382G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.684G>T MANE Select	ENSP00000261024.3:p.Gln228His
ENST00000261024.6:c.684G>T	ENSP00000261024.2:p.Gln228His
NM_014585.5:c.684G>T , LRG_837t1:c.684G>T	NP_055400.1:p.Gln228His
XM_005246505.1:c.564G>T	XP_005246562.1:p.Gln188His
XM_005246505.2:c.564G>T	XP_005246562.1:p.Gln188His
XM_017003938.2:c.564G>T	XP_016859427.1:p.Gln188His
NM_014585.6:c.684G>T MANE Select	NP_055400.1:p.Gln228His