Canonical Allele Identifier: CA14843142
Gene: AHCY HGNC NCBI

Linked Data

dbSNP Id: rs819169
gnomAD v2: 20-32868037-G-A
gnomAD v3: 20-34280231-G-A
gnomAD v4: 20-34280231-G-A
MyVariant Identifiers: chr20:g.32868037G>A (hg19) chr20:g.34280231G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34280231G>A , CM000682.2:g.34280231G>A GRCh38
NC_000020.10:g.32868037G>A , CM000682.1:g.32868037G>A GRCh37
NC_000020.9:g.32331698G>A NCBI36
NG_012630.1:g.36572C>T
NG_012630.2:g.36572C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011528657.1:c.*7+796C>T XP_011526959.1:n.*7+796C>T
XM_011528658.1:c.*7+796C>T XP_011526960.1:n.*7+796C>T
XM_011528657.2:c.*7+796C>T XP_011526959.2:n.*7+796C>T
XM_011528658.3:c.*7+796C>T XP_011526960.2:n.*7+796C>T
XM_017027709.2:c.*7+796C>T XP_016883198.1:n.*7+796C>T
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