Canonical Allele Identifier: CA288566812

Gene: SLC47A1

Linked Data

• dbSNP Id: rs887969964
• gnomAD v3: 17-19560054-T-C
• gnomAD v4: 17-19560054-T-C
• MyVariant Identifiers: chr17:g.19463367T>C (hg19) ; chr17:g.19560054T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19560054T>C , CM000679.2:g.19560054T>C	GRCh38
NC_000017.10:g.19463367T>C , CM000679.1:g.19463367T>C	GRCh37
NC_000017.9:g.19403959T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270570.8:c.922-134T>C MANE Select	ENSP00000270570.4:n.922-134T>C
ENST00000395585.5:c.922-134T>C	ENSP00000378951.1:n.922-134T>C
ENST00000436810.6:c.853-134T>C	ENSP00000407155.2:n.853-134T>C
ENST00000495425.6:n.365-134T>C
ENST00000497548.5:n.1068+3992T>C
ENST00000571335.5:c.337-134T>C	ENSP00000462630.1:n.337-134T>C
ENST00000573009.1:n.232-116T>C
ENST00000575023.5:c.498+10377T>C	ENSP00000460164.1:n.498+10377T>C
ENST00000575377.5:n.187-134T>C
NM_018242.2:c.922-134T>C	NP_060712.2:n.922-134T>C
NM_018242.3:c.922-134T>C MANE Select	NP_060712.2:n.922-134T>C