Canonical Allele Identifier: CA2636588915

Gene: SLC47A1

Linked Data

• gnomAD v4: 17-19560053-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19560053A>C , CM000679.2:g.19560053A>C	GRCh38
NC_000017.10:g.19463366A>C , CM000679.1:g.19463366A>C	GRCh37
NC_000017.9:g.19403958A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270570.8:c.922-135A>C MANE Select	ENSP00000270570.4:n.922-135A>C
ENST00000395585.5:c.922-135A>C	ENSP00000378951.1:n.922-135A>C
ENST00000436810.6:c.853-135A>C	ENSP00000407155.2:n.853-135A>C
ENST00000495425.6:n.365-135A>C
ENST00000497548.5:n.1068+3991A>C
ENST00000571335.5:c.337-135A>C	ENSP00000462630.1:n.337-135A>C
ENST00000573009.1:n.232-117A>C
ENST00000575023.5:c.498+10376A>C	ENSP00000460164.1:n.498+10376A>C
ENST00000575377.5:n.187-135A>C
NM_018242.2:c.922-135A>C	NP_060712.2:n.922-135A>C
NM_018242.3:c.922-135A>C MANE Select	NP_060712.2:n.922-135A>C