Canonical Allele Identifier: CA3718024

Linked Data

dbSNP Id: rs748495648
gnomAD v2: 6-31625367-G-T
gnomAD v4: 6-31657590-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31657590G>T , CM000668.2:g.31657590G>T GRCh38
NC_000006.11:g.31625367G>T , CM000668.1:g.31625367G>T GRCh37
NC_000006.10:g.31733346G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375916.4:c.443-35G>T (APOM) MANE Select ENSP00000365081.3:n.443-35G>T
ENST00000375916.3:c.443-35G>T (APOM) ENSP00000365081.3:n.443-35G>T
ENST00000375918.6:c.227-35G>T (APOM) ENSP00000365083.2:n.227-35G>T
ENST00000375920.8:c.227-35G>T (APOM) ENSP00000365085.4:n.227-35G>T
NM_001256169.1:c.227-35G>T (APOM) NP_001243098.1:n.227-35G>T
NM_019101.2:c.443-35G>T (APOM) NP_061974.2:n.443-35G>T
NR_045828.1:n.478-35G>T (APOM)
XM_006715150.2:c.347-35G>T (APOM) XP_006715213.1:n.347-35G>T
XM_011514895.1:c.-14+2731C>A (BAG6) XP_011513197.1:n.-14+2731C>A
XM_006715150.3:c.347-35G>T (APOM) XP_006715213.1:n.347-35G>T
XM_017011279.2:c.-14+2731C>A (BAG6) XP_016866768.1:n.-14+2731C>A
XM_024446545.1:c.-14+174C>A (BAG6) XP_024302313.1:n.-14+174C>A
NM_019101.3:c.443-35G>T (APOM) MANE Select NP_061974.2:n.443-35G>T
NM_001256169.2:c.227-35G>T (APOM) NP_001243098.1:n.227-35G>T
NR_045828.2:n.484-35G>T (APOM)