Canonical Allele Identifier: CA2497029346
Community Standard Title: NM_018242.3(SLC47A1):c.922-158G=
Gene: SLC47A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19560030G= , CM000679.2:g.19560030G= GRCh38
NC_000017.10:g.19463343G= , CM000679.1:g.19463343G= GRCh37
NC_000017.9:g.19403935G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_018242.3:c.922-158G= MANE Select NP_060712.2:n.922-158G=
ENST00000270570.8:c.922-158G= MANE Select ENSP00000270570.4:n.922-158G=
NM_018242.2:c.922-158G= NP_060712.2:n.922-158G=
ENST00000395585.5:c.922-158G= ENSP00000378951.1:n.922-158G=
ENST00000436810.6:c.853-158G= ENSP00000407155.2:n.853-158G=
ENST00000495425.6:n.365-158G=
ENST00000497548.5:n.1068+3968G=
ENST00000571335.5:c.337-158G= ENSP00000462630.1:n.337-158G=
ENST00000573009.1:n.232-140G=
ENST00000575023.5:c.498+10353G= ENSP00000460164.1:n.498+10353G=
ENST00000575377.5:n.187-158G=