Canonical Allele Identifier: CA3718062

Linked Data

dbSNP Id: rs200256338
gnomAD v2: 6-31625831-C-G
gnomAD v3: 6-31658054-C-G
gnomAD v4: 6-31658054-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31658054C>G , CM000668.2:g.31658054C>G GRCh38
NC_000006.11:g.31625831C>G , CM000668.1:g.31625831C>G GRCh37
NC_000006.10:g.31733810C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375916.4:c.542-10C>G (APOM) MANE Select ENSP00000365081.3:n.542-10C>G
ENST00000375916.3:c.542-10C>G (APOM) ENSP00000365081.3:n.542-10C>G
ENST00000375918.6:c.*266C>G (APOM) ENSP00000365083.2:n.*266C>G
ENST00000375920.8:c.326-10C>G (APOM) ENSP00000365085.4:n.326-10C>G
NM_001256169.1:c.326-10C>G (APOM) NP_001243098.1:n.326-10C>G
NM_019101.2:c.542-10C>G (APOM) NP_061974.2:n.542-10C>G
NR_045828.1:n.577-10C>G (APOM)
XM_006715150.2:c.446-10C>G (APOM) XP_006715213.1:n.446-10C>G
XM_011514895.1:c.-14+2267G>C (BAG6) XP_011513197.1:n.-14+2267G>C
XM_006715150.3:c.446-10C>G (APOM) XP_006715213.1:n.446-10C>G
XM_017011279.2:c.-14+2267G>C (BAG6) XP_016866768.1:n.-14+2267G>C
NM_019101.3:c.542-10C>G (APOM) MANE Select NP_061974.2:n.542-10C>G
NM_001256169.2:c.326-10C>G (APOM) NP_001243098.1:n.326-10C>G
NR_045828.2:n.583-10C>G (APOM)