Canonical Allele Identifier: CA2636588905
Gene: SLC47A1 HGNC NCBI

Linked Data

gnomAD v4: 17-19560047-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19560047A>C , CM000679.2:g.19560047A>C GRCh38
NC_000017.10:g.19463360A>C , CM000679.1:g.19463360A>C GRCh37
NC_000017.9:g.19403952A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000270570.8:c.922-141A>C MANE Select ENSP00000270570.4:n.922-141A>C
ENST00000395585.5:c.922-141A>C ENSP00000378951.1:n.922-141A>C
ENST00000436810.6:c.853-141A>C ENSP00000407155.2:n.853-141A>C
ENST00000495425.6:n.365-141A>C
ENST00000497548.5:n.1068+3985A>C
ENST00000571335.5:c.337-141A>C ENSP00000462630.1:n.337-141A>C
ENST00000573009.1:n.232-123A>C
ENST00000575023.5:c.498+10370A>C ENSP00000460164.1:n.498+10370A>C
ENST00000575377.5:n.187-141A>C
NM_018242.2:c.922-141A>C NP_060712.2:n.922-141A>C
NM_018242.3:c.922-141A>C MANE Select NP_060712.2:n.922-141A>C
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