Canonical Allele Identifier: CA3020782
Gene: ADH7 HGNC NCBI

Linked Data

dbSNP Id: rs748837724
gnomAD v4: 4-99420787-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99420787G>A , CM000666.2:g.99420787G>A GRCh38
NC_000004.11:g.100341944G>A , CM000666.1:g.100341944G>A GRCh37
NC_000004.10:g.100560967G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437033.7:c.571C>T MANE Select ENSP00000414254.2:p.Pro191Ser
ENST00000209665.8:c.607C>T ENSP00000209665.4:p.Pro203Ser
ENST00000437033.6:c.571C>T ENSP00000414254.2:p.Pro191Ser
ENST00000476959.5:c.631C>T ENSP00000420269.1:p.Pro211Ser
ENST00000482593.5:c.400C>T ENSP00000420613.1:p.Pro134Ser
NM_000673.4:c.607C>T NP_000664.2:p.Pro203Ser
NM_001166504.1:c.631C>T NP_001159976.1:p.Pro211Ser
NM_000673.7:c.571C>T MANE Select NP_000664.3:p.Pro191Ser
NM_001166504.2:c.631C>T NP_001159976.1:p.Pro211Ser