Canonical Allele Identifier: CA363427658

Linked Data

dbSNP Id: rs1315208102
gnomAD v2: 6-31625190-G-A
gnomAD v3: 6-31657413-G-A
gnomAD v4: 6-31657413-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31657413G>A , CM000668.2:g.31657413G>A GRCh38
NC_000006.11:g.31625190G>A , CM000668.1:g.31625190G>A GRCh37
NC_000006.10:g.31733169G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375916.4:c.377G>A (APOM) MANE Select ENSP00000365081.3:p.Ser126Asn
ENST00000375916.3:c.377G>A (APOM) ENSP00000365081.3:p.Ser126Asn
ENST00000375918.6:c.161G>A (APOM) ENSP00000365083.2:p.Ser54Asn
ENST00000375920.8:c.161G>A (APOM) ENSP00000365085.4:p.Ser54Asn
NM_001256169.1:c.161G>A (APOM) NP_001243098.1:p.Ser54Asn
NM_019101.2:c.377G>A (APOM) NP_061974.2:p.Ser126Asn
NR_045828.1:n.412G>A (APOM)
XM_006715150.2:c.281G>A (APOM) XP_006715213.1:p.Ser94Asn
XM_011514895.1:c.-14+2908C>T (BAG6) XP_011513197.1:n.-14+2908C>T
XM_006715150.3:c.281G>A (APOM) XP_006715213.1:p.Ser94Asn
XM_017011279.2:c.-14+2908C>T (BAG6) XP_016866768.1:n.-14+2908C>T
XM_024446545.1:c.-14+351C>T (BAG6) XP_024302313.1:n.-14+351C>T
NM_019101.3:c.377G>A (APOM) MANE Select NP_061974.2:p.Ser126Asn
NM_001256169.2:c.161G>A (APOM) NP_001243098.1:p.Ser54Asn
NR_045828.2:n.418G>A (APOM)