Canonical Allele Identifier: CA357497866
Gene: ADH7 HGNC NCBI

Linked Data

gnomAD v4: 4-99420788-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99420788T>A , CM000666.2:g.99420788T>A GRCh38
NC_000004.11:g.100341945T>A , CM000666.1:g.100341945T>A GRCh37
NC_000004.10:g.100560968T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437033.7:c.570A>T MANE Select ENSP00000414254.2:p.Lys190Asn
ENST00000209665.8:c.606A>T ENSP00000209665.4:p.Lys202Asn
ENST00000437033.6:c.570A>T ENSP00000414254.2:p.Lys190Asn
ENST00000476959.5:c.630A>T ENSP00000420269.1:p.Lys210Asn
ENST00000482593.5:c.399A>T ENSP00000420613.1:p.Lys133Asn
NM_000673.4:c.606A>T NP_000664.2:p.Lys202Asn
NM_001166504.1:c.630A>T NP_001159976.1:p.Lys210Asn
NM_000673.7:c.570A>T MANE Select NP_000664.3:p.Lys190Asn
NM_001166504.2:c.630A>T NP_001159976.1:p.Lys210Asn