Canonical Allele Identifier: CA3718030

Linked Data

dbSNP Id: rs759730419
gnomAD v2: 6-31625405-G-A
gnomAD v3: 6-31657628-G-A
gnomAD v4: 6-31657628-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31657628G>A , CM000668.2:g.31657628G>A GRCh38
NC_000006.11:g.31625405G>A , CM000668.1:g.31625405G>A GRCh37
NC_000006.10:g.31733384G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375916.4:c.446G>A (APOM) MANE Select ENSP00000365081.3:p.Arg149His
ENST00000375916.3:c.446G>A (APOM) ENSP00000365081.3:p.Arg149His
ENST00000375918.6:c.230G>A (APOM) ENSP00000365083.2:p.Arg77His
ENST00000375920.8:c.230G>A (APOM) ENSP00000365085.4:p.Arg77His
NM_001256169.1:c.230G>A (APOM) NP_001243098.1:p.Arg77His
NM_019101.2:c.446G>A (APOM) NP_061974.2:p.Arg149His
NR_045828.1:n.481G>A (APOM)
XM_006715150.2:c.350G>A (APOM) XP_006715213.1:p.Arg117His
XM_011514895.1:c.-14+2693C>T (BAG6) XP_011513197.1:n.-14+2693C>T
XM_006715150.3:c.350G>A (APOM) XP_006715213.1:p.Arg117His
XM_017011279.2:c.-14+2693C>T (BAG6) XP_016866768.1:n.-14+2693C>T
XM_024446545.1:c.-14+136C>T (BAG6) XP_024302313.1:n.-14+136C>T
NM_019101.3:c.446G>A (APOM) MANE Select NP_061974.2:p.Arg149His
NM_001256169.2:c.230G>A (APOM) NP_001243098.1:p.Arg77His
NR_045828.2:n.487G>A (APOM)