Canonical Allele Identifier: CA3717966

Linked Data

dbSNP Id: rs368239443
gnomAD v2: 6-31624442-C-G
gnomAD v3: 6-31656665-C-G
gnomAD v4: 6-31656665-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31656665C>G , CM000668.2:g.31656665C>G GRCh38
NC_000006.11:g.31624442C>G , CM000668.1:g.31624442C>G GRCh37
NC_000006.10:g.31732421C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375916.4:c.269+39C>G (APOM) MANE Select ENSP00000365081.3:n.269+39C>G
ENST00000375916.3:c.269+39C>G (APOM) ENSP00000365081.3:n.269+39C>G
ENST00000375918.6:c.53+39C>G (APOM) ENSP00000365083.2:n.53+39C>G
ENST00000375920.8:c.53+39C>G (APOM) ENSP00000365085.4:n.53+39C>G
NM_001256169.1:c.53+39C>G (APOM) NP_001243098.1:n.53+39C>G
NM_019101.2:c.269+39C>G (APOM) NP_061974.2:n.269+39C>G
NR_045828.1:n.304+32C>G (APOM)
XM_006715150.2:c.173+32C>G (APOM) XP_006715213.1:n.173+32C>G
XM_011514895.1:c.-14+3656G>C (BAG6) XP_011513197.1:n.-14+3656G>C
XM_006715150.3:c.173+32C>G (APOM) XP_006715213.1:n.173+32C>G
XM_017011279.2:c.-14+3656G>C (BAG6) XP_016866768.1:n.-14+3656G>C
XM_024446545.1:c.-14+1099G>C (BAG6) XP_024302313.1:n.-14+1099G>C
NM_019101.3:c.269+39C>G (APOM) MANE Select NP_061974.2:n.269+39C>G
NM_001256169.2:c.53+39C>G (APOM) NP_001243098.1:n.53+39C>G
NR_045828.2:n.310+32C>G (APOM)