Canonical Allele Identifier: CA349988230

Gene: SLC40A1

Linked Data

• dbSNP Id: rs1242646094
• gnomAD v2: 2-190428842-C-A
• gnomAD v4: 2-189564116-C-A
• MyVariant Identifiers: chr2:g.190428842C>A (hg19) ; chr2:g.189564116C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189564116C>A , CM000664.2:g.189564116C>A	GRCh38
NC_000002.11:g.190428842C>A , CM000664.1:g.190428842C>A	GRCh37
NC_000002.10:g.190137087C>A	NCBI36
NG_009027.1:g.21696G>T , LRG_837:g.21696G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.870G>T MANE Select	ENSP00000261024.3:p.Glu290Asp
ENST00000261024.6:c.870G>T	ENSP00000261024.2:p.Glu290Asp
NM_014585.5:c.870G>T , LRG_837t1:c.870G>T	NP_055400.1:p.Glu290Asp
XM_005246505.1:c.750G>T	XP_005246562.1:p.Glu250Asp
XM_005246505.2:c.750G>T	XP_005246562.1:p.Glu250Asp
XM_017003938.2:c.750G>T	XP_016859427.1:p.Glu250Asp
NM_014585.6:c.870G>T MANE Select	NP_055400.1:p.Glu290Asp