Canonical Allele Identifier: CA1017104688

Gene: AHCY

Linked Data

• dbSNP Id: rs819146
• gnomAD v3: 20-34303394-G-A
• gnomAD v4: 20-34303394-G-A

Genomic Alleles

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

Transcript Alleles

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