Canonical Allele Identifier: CA313342128

Gene: AHCY

Linked Data

• dbSNP Id: rs1029408114
• gnomAD v2: 20-32868027-A-G
• gnomAD v3: 20-34280221-A-G
• gnomAD v4: 20-34280221-A-G
• MyVariant Identifiers: chr20:g.32868027A>G (hg19) ; chr20:g.34280221A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34280221A>G , CM000682.2:g.34280221A>G	GRCh38
NC_000020.10:g.32868027A>G , CM000682.1:g.32868027A>G	GRCh37
NC_000020.9:g.32331688A>G	NCBI36
NG_012630.1:g.36582T>C
NG_012630.2:g.36582T>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011528657.1:c.*7+806T>C	XP_011526959.1:n.*7+806T>C
XM_011528658.1:c.*7+806T>C	XP_011526960.1:n.*7+806T>C
XM_011528657.2:c.*7+806T>C	XP_011526959.2:n.*7+806T>C
XM_011528658.3:c.*7+806T>C	XP_011526960.2:n.*7+806T>C
XM_017027709.2:c.*7+806T>C	XP_016883198.1:n.*7+806T>C