Canonical Allele Identifier: CA398709732

Gene: SLC47A1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_018242.3:c.1012G>C MANE Select	NP_060712.2:p.Val338Leu
ENST00000270570.8:c.1012G>C MANE Select	ENSP00000270570.4:p.Val338Leu
NM_018242.2:c.1012G>C	NP_060712.2:p.Val338Leu
ENST00000395585.5:c.1012G>C	ENSP00000378951.1:p.Val338Leu
ENST00000436810.6:c.943G>C	ENSP00000407155.2:p.Val315Leu
ENST00000495425.6:n.455G>C
ENST00000497548.5:n.1068+4216G>C
ENST00000571335.5:c.427G>C	ENSP00000462630.1:p.Val143Leu
ENST00000573009.1:n.340G>C
ENST00000575023.5:c.498+10601G>C	ENSP00000460164.1:n.498+10601G>C
ENST00000575377.5:n.277G>C