Canonical Allele Identifier: CA2636588918

Gene: SLC47A1

Linked Data

• gnomAD v4: 17-19560055-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19560055G>T , CM000679.2:g.19560055G>T	GRCh38
NC_000017.10:g.19463368G>T , CM000679.1:g.19463368G>T	GRCh37
NC_000017.9:g.19403960G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270570.8:c.922-133G>T MANE Select	ENSP00000270570.4:n.922-133G>T
ENST00000395585.5:c.922-133G>T	ENSP00000378951.1:n.922-133G>T
ENST00000436810.6:c.853-133G>T	ENSP00000407155.2:n.853-133G>T
ENST00000495425.6:n.365-133G>T
ENST00000497548.5:n.1068+3993G>T
ENST00000571335.5:c.337-133G>T	ENSP00000462630.1:n.337-133G>T
ENST00000573009.1:n.232-115G>T
ENST00000575023.5:c.498+10378G>T	ENSP00000460164.1:n.498+10378G>T
ENST00000575377.5:n.187-133G>T
NM_018242.2:c.922-133G>T	NP_060712.2:n.922-133G>T
NM_018242.3:c.922-133G>T MANE Select	NP_060712.2:n.922-133G>T