Canonical Allele Identifier: CA14786824
Gene: AHCY HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs819147

Genomic Alleles

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

Transcript Alleles

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