Canonical Allele Identifier: CA566364380

Linked Data

dbSNP Id: rs1432420253
gnomAD v2: 6-31625913-T-C
gnomAD v4: 6-31658136-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31658136T>C , CM000668.2:g.31658136T>C GRCh38
NC_000006.11:g.31625913T>C , CM000668.1:g.31625913T>C GRCh37
NC_000006.10:g.31733892T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375916.4:c.*47T>C (APOM) MANE Select ENSP00000365081.3:n.*47T>C
ENST00000375916.3:c.*47T>C (APOM) ENSP00000365081.3:n.*47T>C
ENST00000375920.8:c.*47T>C (APOM) ENSP00000365085.4:n.*47T>C
NM_001256169.1:c.*47T>C (APOM) NP_001243098.1:n.*47T>C
NM_019101.2:c.*47T>C (APOM) NP_061974.2:n.*47T>C
NR_045828.1:n.649T>C (APOM)
XM_006715150.2:c.*47T>C (APOM) XP_006715213.1:n.*47T>C
XM_011514895.1:c.-14+2185A>G (BAG6) XP_011513197.1:n.-14+2185A>G
XM_006715150.3:c.*47T>C (APOM) XP_006715213.1:n.*47T>C
XM_017011279.2:c.-14+2185A>G (BAG6) XP_016866768.1:n.-14+2185A>G
NM_019101.3:c.*47T>C (APOM) MANE Select NP_061974.2:n.*47T>C
NM_001256169.2:c.*47T>C (APOM) NP_001243098.1:n.*47T>C
NR_045828.2:n.655T>C (APOM)