Canonical Allele Identifier: CA204355
Gene: ALDH6A1 HGNC NCBI
BBOF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208071
ClinVar RCV Id: RCV000190333
dbSNP Id: rs796065046
gnomAD v4: 14-74072539-G-A
MyVariant Identifiers: chr14:g.74539242G>A (hg19) chr14:g.74072539G>A (hg38)
PubMed: PMID:11446412 PMID:21863277
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74072539G>A , CM000676.2:g.74072539G>A GRCh38
NC_000014.8:g.74539242G>A , CM000676.1:g.74539242G>A GRCh37
NC_000014.7:g.73608995G>A NCBI36
NG_012257.2:g.16955C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000553458.6:c.184C>T (ALDH6A1) MANE Select ENSP00000450436.1:p.Pro62Ser
ENST00000350259.8:c.184C>T (ALDH6A1) ENSP00000342564.4:p.Pro62Ser
ENST00000492026.4:n.1380-5657G>A (BBOF1)
ENST00000553458.5:c.184C>T (ALDH6A1) ENSP00000450436.1:p.Pro62Ser
ENST00000553814.5:n.138-175C>T (ALDH6A1)
ENST00000554231.5:n.282C>T (ALDH6A1)
ENST00000554501.5:n.239C>T (ALDH6A1)
ENST00000556852.1:n.237C>T (ALDH6A1)
NM_001278593.1:c.184C>T (ALDH6A1) NP_001265522.1:p.Pro62Ser
NM_001278594.1:c.-442C>T (ALDH6A1) NP_001265523.1:n.-442C>T
NM_005589.3:c.184C>T (ALDH6A1) NP_005580.1:p.Pro62Ser
XM_011537172.1:c.1687-5657G>A (BBOF1) XP_011535474.1:n.1687-5657G>A
XM_011537173.1:c.1694-5657G>A (BBOF1) XP_011535475.1:n.1694-5657G>A
XM_017021331.2:c.-351C>T (ALDH6A1) XP_016876820.1:n.-351C>T
XM_017021659.1:c.1579-5657G>A (BBOF1) XP_016877148.1:n.1579-5657G>A
NM_001278593.2:c.184C>T (ALDH6A1) NP_001265522.1:p.Pro62Ser
NM_001278594.2:c.-442C>T (ALDH6A1) NP_001265523.1:n.-442C>T
NM_005589.4:c.184C>T (ALDH6A1) MANE Select NP_005580.1:p.Pro62Ser
Search 100 bp 5'
Search 100 bp 3'