Canonical Allele Identifier: CA349988458

Gene: SLC40A1

Linked Data

• dbSNP Id: rs1424314710
• gnomAD v2: 2-190428945-T-A
• gnomAD v4: 2-189564219-T-A
• MyVariant Identifiers: chr2:g.190428945T>A (hg19) ; chr2:g.189564219T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189564219T>A , CM000664.2:g.189564219T>A	GRCh38
NC_000002.11:g.190428945T>A , CM000664.1:g.190428945T>A	GRCh37
NC_000002.10:g.190137190T>A	NCBI36
NG_009027.1:g.21593A>T , LRG_837:g.21593A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.767A>T MANE Select	ENSP00000261024.3:p.Glu256Val
ENST00000261024.6:c.767A>T	ENSP00000261024.2:p.Glu256Val
NM_014585.5:c.767A>T , LRG_837t1:c.767A>T	NP_055400.1:p.Glu256Val
XM_005246505.1:c.647A>T	XP_005246562.1:p.Glu216Val
XM_005246505.2:c.647A>T	XP_005246562.1:p.Glu216Val
XM_017003938.2:c.647A>T	XP_016859427.1:p.Glu216Val
NM_014585.6:c.767A>T MANE Select	NP_055400.1:p.Glu256Val