Canonical Allele Identifier: CA14786810
Gene: AHCY HGNC NCBI

Linked Data

dbSNP Id: rs819171
gnomAD v2: 20-32867984-C-T
gnomAD v3: 20-34280178-C-T
gnomAD v4: 20-34280178-C-T
MyVariant Identifiers: chr20:g.32867984C>T (hg19) chr20:g.34280178C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34280178C>T , CM000682.2:g.34280178C>T GRCh38
NC_000020.10:g.32867984C>T , CM000682.1:g.32867984C>T GRCh37
NC_000020.9:g.32331645C>T NCBI36
NG_012630.1:g.36625G>A
NG_012630.2:g.36625G>A

Transcript Alleles

HGVS Amino-acid change
XM_011528657.1:c.*7+849G>A XP_011526959.1:n.*7+849G>A
XM_011528658.1:c.*7+849G>A XP_011526960.1:n.*7+849G>A
XM_011528657.2:c.*7+849G>A XP_011526959.2:n.*7+849G>A
XM_011528658.3:c.*7+849G>A XP_011526960.2:n.*7+849G>A
XM_017027709.2:c.*7+849G>A XP_016883198.1:n.*7+849G>A
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