Canonical Allele Identifier: CA3717991

Linked Data

dbSNP Id: rs750468048
gnomAD v2: 6-31625135-C-A
gnomAD v3: 6-31657358-C-A
gnomAD v4: 6-31657358-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31657358C>A , CM000668.2:g.31657358C>A GRCh38
NC_000006.11:g.31625135C>A , CM000668.1:g.31625135C>A GRCh37
NC_000006.10:g.31733114C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375916.4:c.344-22C>A (APOM) MANE Select ENSP00000365081.3:n.344-22C>A
ENST00000375916.3:c.344-22C>A (APOM) ENSP00000365081.3:n.344-22C>A
ENST00000375918.6:c.128-22C>A (APOM) ENSP00000365083.2:n.128-22C>A
ENST00000375920.8:c.128-22C>A (APOM) ENSP00000365085.4:n.128-22C>A
NM_001256169.1:c.128-22C>A (APOM) NP_001243098.1:n.128-22C>A
NM_019101.2:c.344-22C>A (APOM) NP_061974.2:n.344-22C>A
NR_045828.1:n.379-22C>A (APOM)
XM_006715150.2:c.248-22C>A (APOM) XP_006715213.1:n.248-22C>A
XM_011514895.1:c.-14+2963G>T (BAG6) XP_011513197.1:n.-14+2963G>T
XM_006715150.3:c.248-22C>A (APOM) XP_006715213.1:n.248-22C>A
XM_017011279.2:c.-14+2963G>T (BAG6) XP_016866768.1:n.-14+2963G>T
XM_024446545.1:c.-14+406G>T (BAG6) XP_024302313.1:n.-14+406G>T
NM_019101.3:c.344-22C>A (APOM) MANE Select NP_061974.2:n.344-22C>A
NM_001256169.2:c.128-22C>A (APOM) NP_001243098.1:n.128-22C>A
NR_045828.2:n.385-22C>A (APOM)