Canonical Allele Identifier: CA743845699

Gene: AHCY

Linked Data

• dbSNP Id: rs1192117250
• gnomAD v3: 20-34280219-G-T
• gnomAD v4: 20-34280219-G-T
• MyVariant Identifiers: chr20:g.32868025G>T (hg19) ; chr20:g.34280219G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34280219G>T , CM000682.2:g.34280219G>T	GRCh38
NC_000020.10:g.32868025G>T , CM000682.1:g.32868025G>T	GRCh37
NC_000020.9:g.32331686G>T	NCBI36
NG_012630.1:g.36584C>A
NG_012630.2:g.36584C>A

Transcript Alleles

HGVS	Amino-acid Change
XM_011528657.1:c.*7+808C>A	XP_011526959.1:n.*7+808C>A
XM_011528658.1:c.*7+808C>A	XP_011526960.1:n.*7+808C>A
XM_011528657.2:c.*7+808C>A	XP_011526959.2:n.*7+808C>A
XM_011528658.3:c.*7+808C>A	XP_011526960.2:n.*7+808C>A
XM_017027709.2:c.*7+808C>A	XP_016883198.1:n.*7+808C>A