Canonical Allele Identifier: CA2636588897

Gene: SLC47A1

Linked Data

• gnomAD v4: 17-19560040-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19560040C>A , CM000679.2:g.19560040C>A	GRCh38
NC_000017.10:g.19463353C>A , CM000679.1:g.19463353C>A	GRCh37
NC_000017.9:g.19403945C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270570.8:c.922-148C>A MANE Select	ENSP00000270570.4:n.922-148C>A
ENST00000395585.5:c.922-148C>A	ENSP00000378951.1:n.922-148C>A
ENST00000436810.6:c.853-148C>A	ENSP00000407155.2:n.853-148C>A
ENST00000495425.6:n.365-148C>A
ENST00000497548.5:n.1068+3978C>A
ENST00000571335.5:c.337-148C>A	ENSP00000462630.1:n.337-148C>A
ENST00000573009.1:n.232-130C>A
ENST00000575023.5:c.498+10363C>A	ENSP00000460164.1:n.498+10363C>A
ENST00000575377.5:n.187-148C>A
NM_018242.2:c.922-148C>A	NP_060712.2:n.922-148C>A
NM_018242.3:c.922-148C>A MANE Select	NP_060712.2:n.922-148C>A