Canonical Allele Identifier: CA10652482

Gene: AHCY

Linked Data

• ClinVar Variation Id: 338286
• ClinVar RCV Id: RCV000348058
• dbSNP Id: rs819146
• gnomAD v2: 20-32891200-G-T
• gnomAD v3: 20-34303394-G-T
• gnomAD v4: 20-34303394-G-T
• MyVariant Identifiers: chr20:g.32891200G>T (hg19) ; chr20:g.34303394G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34303394G>T , CM000682.2:g.34303394G>T	GRCh38
NC_000020.10:g.32891200G>T , CM000682.1:g.32891200G>T	GRCh37
NC_000020.9:g.32354861G>T	NCBI36
NG_012630.1:g.13409C>A
NG_012630.2:g.13409C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000538132.1:c.-56-7809C>A	ENSP00000442820.1:n.-56-7809C>A
NM_000687.2:c.-124C>A	NP_000678.1:n.-124C>A
NM_001161766.1:c.-56-7809C>A	NP_001155238.1:n.-56-7809C>A
XM_011528659.1:c.-56-7809C>A	XP_011526961.1:n.-56-7809C>A
NM_000687.3:c.-124C>A	NP_000678.1:n.-124C>A
NM_001362750.1:c.-124C>A	NP_001349679.1:n.-124C>A
NM_001161766.2:c.-56-7809C>A	NP_001155238.1:n.-56-7809C>A