Canonical Allele Identifier: CA288566808

Gene: SLC47A1

Linked Data

• dbSNP Id: rs1026521351
• gnomAD v3: 17-19560045-C-T
• gnomAD v4: 17-19560045-C-T
• MyVariant Identifiers: chr17:g.19463358C>T (hg19) ; chr17:g.19560045C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19560045C>T , CM000679.2:g.19560045C>T	GRCh38
NC_000017.10:g.19463358C>T , CM000679.1:g.19463358C>T	GRCh37
NC_000017.9:g.19403950C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270570.8:c.922-143C>T MANE Select	ENSP00000270570.4:n.922-143C>T
ENST00000395585.5:c.922-143C>T	ENSP00000378951.1:n.922-143C>T
ENST00000436810.6:c.853-143C>T	ENSP00000407155.2:n.853-143C>T
ENST00000495425.6:n.365-143C>T
ENST00000497548.5:n.1068+3983C>T
ENST00000571335.5:c.337-143C>T	ENSP00000462630.1:n.337-143C>T
ENST00000573009.1:n.232-125C>T
ENST00000575023.5:c.498+10368C>T	ENSP00000460164.1:n.498+10368C>T
ENST00000575377.5:n.187-143C>T
NM_018242.2:c.922-143C>T	NP_060712.2:n.922-143C>T
NM_018242.3:c.922-143C>T MANE Select	NP_060712.2:n.922-143C>T