Canonical Allele Identifier: CA14446648
Gene: SLC47A1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.19560030G>A
GRCh37 chr17:g.19463343G>A
gnomAD v2:
17:19463343 G / A
gnomAD v3:
17:19560030 G / A
gnomAD v4:
chr17-19560030-G-A
Joint Max Group AF 0.53046699 (MID)
Genomes Max Group AF 0.47903532 (SAS)
Exomes Max Group AF 0.53550273 (MID)
dbSNP:
2289669
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Genomic Alleles

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

Transcript Alleles

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