Canonical Allele Identifier: CA726755765

Gene: SLC47A1

Linked Data

• dbSNP Id: rs1394739016
• gnomAD v3: 17-19560042-A-G
• gnomAD v4: 17-19560042-A-G
• MyVariant Identifiers: chr17:g.19463355A>G (hg19) ; chr17:g.19560042A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19560042A>G , CM000679.2:g.19560042A>G	GRCh38
NC_000017.10:g.19463355A>G , CM000679.1:g.19463355A>G	GRCh37
NC_000017.9:g.19403947A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270570.8:c.922-146A>G MANE Select	ENSP00000270570.4:n.922-146A>G
ENST00000395585.5:c.922-146A>G	ENSP00000378951.1:n.922-146A>G
ENST00000436810.6:c.853-146A>G	ENSP00000407155.2:n.853-146A>G
ENST00000495425.6:n.365-146A>G
ENST00000497548.5:n.1068+3980A>G
ENST00000571335.5:c.337-146A>G	ENSP00000462630.1:n.337-146A>G
ENST00000573009.1:n.232-128A>G
ENST00000575023.5:c.498+10365A>G	ENSP00000460164.1:n.498+10365A>G
ENST00000575377.5:n.187-146A>G
NM_018242.2:c.922-146A>G	NP_060712.2:n.922-146A>G
NM_018242.3:c.922-146A>G MANE Select	NP_060712.2:n.922-146A>G