Canonical Allele Identifier: CA566364039

Linked Data

dbSNP Id: rs1296018808
gnomAD v2: 6-31624978-T-G
gnomAD v4: 6-31657201-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31657201T>G , CM000668.2:g.31657201T>G GRCh38
NC_000006.11:g.31624978T>G , CM000668.1:g.31624978T>G GRCh37
NC_000006.10:g.31732957T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000375916.4:c.270-24T>G (APOM) MANE Select ENSP00000365081.3:n.270-24T>G
ENST00000375916.3:c.270-24T>G (APOM) ENSP00000365081.3:n.270-24T>G
ENST00000375918.6:c.54-24T>G (APOM) ENSP00000365083.2:n.54-24T>G
ENST00000375920.8:c.54-24T>G (APOM) ENSP00000365085.4:n.54-24T>G
NM_001256169.1:c.54-24T>G (APOM) NP_001243098.1:n.54-24T>G
NM_019101.2:c.270-24T>G (APOM) NP_061974.2:n.270-24T>G
NR_045828.1:n.305-24T>G (APOM)
XM_006715150.2:c.174-24T>G (APOM) XP_006715213.1:n.174-24T>G
XM_011514895.1:c.-14+3120A>C (BAG6) XP_011513197.1:n.-14+3120A>C
XM_006715150.3:c.174-24T>G (APOM) XP_006715213.1:n.174-24T>G
XM_017011279.2:c.-14+3120A>C (BAG6) XP_016866768.1:n.-14+3120A>C
XM_024446545.1:c.-14+563A>C (BAG6) XP_024302313.1:n.-14+563A>C
NM_019101.3:c.270-24T>G (APOM) MANE Select NP_061974.2:n.270-24T>G
NM_001256169.2:c.54-24T>G (APOM) NP_001243098.1:n.54-24T>G
NR_045828.2:n.311-24T>G (APOM)