Canonical Allele Identifier: CA363427666

Linked Data

dbSNP Id: rs1269018276
gnomAD v3: 6-31657415-T-G
gnomAD v4: 6-31657415-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31657415T>G , CM000668.2:g.31657415T>G GRCh38
NC_000006.11:g.31625192T>G , CM000668.1:g.31625192T>G GRCh37
NC_000006.10:g.31733171T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000375916.4:c.379T>G (APOM) MANE Select ENSP00000365081.3:p.Ser127Ala
ENST00000375916.3:c.379T>G (APOM) ENSP00000365081.3:p.Ser127Ala
ENST00000375918.6:c.163T>G (APOM) ENSP00000365083.2:p.Ser55Ala
ENST00000375920.8:c.163T>G (APOM) ENSP00000365085.4:p.Ser55Ala
NM_001256169.1:c.163T>G (APOM) NP_001243098.1:p.Ser55Ala
NM_019101.2:c.379T>G (APOM) NP_061974.2:p.Ser127Ala
NR_045828.1:n.414T>G (APOM)
XM_006715150.2:c.283T>G (APOM) XP_006715213.1:p.Ser95Ala
XM_011514895.1:c.-14+2906A>C (BAG6) XP_011513197.1:n.-14+2906A>C
XM_006715150.3:c.283T>G (APOM) XP_006715213.1:p.Ser95Ala
XM_017011279.2:c.-14+2906A>C (BAG6) XP_016866768.1:n.-14+2906A>C
XM_024446545.1:c.-14+349A>C (BAG6) XP_024302313.1:n.-14+349A>C
NM_019101.3:c.379T>G (APOM) MANE Select NP_061974.2:p.Ser127Ala
NM_001256169.2:c.163T>G (APOM) NP_001243098.1:p.Ser55Ala
NR_045828.2:n.420T>G (APOM)