Canonical Allele Identifier: CA1087476768

Linked Data

dbSNP Id: rs1800020239
gnomAD v3: 6-31656110-G-C
gnomAD v4: 6-31656110-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31656110G>C , CM000668.2:g.31656110G>C GRCh38
NC_000006.11:g.31623887G>C , CM000668.1:g.31623887G>C GRCh37
NC_000006.10:g.31731866G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000375916.4:c.114+30G>C (APOM) MANE Select ENSP00000365081.3:n.114+30G>C
ENST00000375916.3:c.114+30G>C (APOM) ENSP00000365081.3:n.114+30G>C
ENST00000375918.6:c.-102-362G>C (APOM) ENSP00000365083.2:n.-102-362G>C
ENST00000375920.8:c.-102-362G>C (APOM) ENSP00000365085.4:n.-102-362G>C
NM_001256169.1:c.-102-362G>C (APOM) NP_001243098.1:n.-102-362G>C
NM_019101.2:c.114+30G>C (APOM) NP_061974.2:n.114+30G>C
NR_045828.1:n.143-362G>C (APOM)
XM_006715150.2:c.11+30G>C (APOM) XP_006715213.1:n.11+30G>C
XM_011514895.1:c.-14+4211C>G (BAG6) XP_011513197.1:n.-14+4211C>G
XM_006715150.3:c.11+30G>C (APOM) XP_006715213.1:n.11+30G>C
XM_017011279.2:c.-14+4211C>G (BAG6) XP_016866768.1:n.-14+4211C>G
XM_024446545.1:c.-14+1654C>G (BAG6) XP_024302313.1:n.-14+1654C>G
NM_019101.3:c.114+30G>C (APOM) MANE Select NP_061974.2:n.114+30G>C
NM_001256169.2:c.-102-362G>C (APOM) NP_001243098.1:n.-102-362G>C
NR_045828.2:n.149-362G>C (APOM)