Canonical Allele Identifier: CA743785158

Gene: AHCY

Linked Data

• dbSNP Id: rs819147
• gnomAD v4: 20-34301898-C-A
• MyVariant Identifiers: chr20:g.32889704C>A (hg19) ; chr20:g.34301898C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34301898C>A , CM000682.2:g.34301898C>A	GRCh38
NC_000020.10:g.32889704C>A , CM000682.1:g.32889704C>A	GRCh37
NC_000020.9:g.32353365C>A	NCBI36
NG_012630.1:g.14905G>T
NG_012630.2:g.14905G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000217426.7:c.28+1345G>T MANE Select	ENSP00000217426.2:n.28+1345G>T
ENST00000217426.6:c.28+1345G>T	ENSP00000217426.2:n.28+1345G>T
ENST00000468908.1:n.51G>T
ENST00000473516.1:n.331+447G>T
ENST00000480653.5:n.75+1345G>T
ENST00000538132.1:c.-56-6313G>T	ENSP00000442820.1:n.-56-6313G>T
ENST00000606061.1:n.115+1345G>T
NM_000687.2:c.28+1345G>T	NP_000678.1:n.28+1345G>T
NM_001161766.1:c.-56-6313G>T	NP_001155238.1:n.-56-6313G>T
XM_005260316.3:c.-197G>T	XP_005260373.1:n.-197G>T
XM_005260317.1:c.-57+718G>T	XP_005260374.1:n.-57+718G>T
XM_011528659.1:c.-56-6313G>T	XP_011526961.1:n.-56-6313G>T
XM_011528660.1:c.-57+38G>T	XP_011526962.1:n.-57+38G>T
NM_000687.3:c.28+1345G>T	NP_000678.1:n.28+1345G>T
NM_001322084.1:c.-197G>T	NP_001309013.1:n.-197G>T
NM_001322085.1:c.-57+38G>T	NP_001309014.1:n.-57+38G>T
NM_001322086.1:c.-118G>T	NP_001309015.1:n.-118G>T
NM_001362750.1:c.28+1345G>T	NP_001349679.1:n.28+1345G>T
XM_005260317.2:c.-57+718G>T	XP_005260374.1:n.-57+718G>T
XM_017027709.2:c.28+1345G>T	XP_016883198.1:n.28+1345G>T
XM_017027710.2:c.-397+1345G>T	XP_016883199.1:n.-397+1345G>T
NM_000687.4:c.28+1345G>T MANE Select	NP_000678.1:n.28+1345G>T
NM_001322084.2:c.-197G>T	NP_001309013.1:n.-197G>T
NM_001322085.2:c.-57+38G>T	NP_001309014.1:n.-57+38G>T
NM_001322086.2:c.-118G>T	NP_001309015.1:n.-118G>T
NM_001362750.2:c.28+1345G>T	NP_001349679.1:n.28+1345G>T
NM_001161766.2:c.-56-6313G>T	NP_001155238.1:n.-56-6313G>T