Canonical Allele Identifier: CA8442386

Gene: SLC47A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19560278G>A , CM000679.2:g.19560278G>A	GRCh38
NC_000017.10:g.19463591G>A , CM000679.1:g.19463591G>A	GRCh37
NC_000017.9:g.19404183G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018242.3:c.1012G>A MANE Select	NP_060712.2:p.Val338Ile
ENST00000270570.8:c.1012G>A MANE Select	ENSP00000270570.4:p.Val338Ile
NM_018242.2:c.1012G>A	NP_060712.2:p.Val338Ile
ENST00000395585.5:c.1012G>A	ENSP00000378951.1:p.Val338Ile
ENST00000436810.6:c.943G>A	ENSP00000407155.2:p.Val315Ile
ENST00000495425.6:n.455G>A
ENST00000497548.5:n.1068+4216G>A
ENST00000571335.5:c.427G>A	ENSP00000462630.1:p.Val143Ile
ENST00000573009.1:n.340G>A
ENST00000575023.5:c.498+10601G>A	ENSP00000460164.1:n.498+10601G>A
ENST00000575377.5:n.277G>A