Canonical Allele Identifier: CA313354284
Gene: AHCY HGNC NCBI

Linked Data

dbSNP Id: rs36043935

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34295280dup , CM000682.2:g.34295280dup GRCh38
NC_000020.10:g.32883086dup , CM000682.1:g.32883086dup GRCh37
NC_000020.9:g.32346747dup NCBI36
NG_012630.1:g.21524dup
NG_012630.2:g.21524dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000217426.7:c.219+116dup MANE Select ENSP00000217426.2:n.219+116dup
ENST00000217426.6:c.219+116dup ENSP00000217426.2:n.219+116dup
ENST00000468908.1:n.382+116dup
ENST00000480653.5:n.266+116dup
ENST00000538132.1:c.135+116dup ENSP00000442820.1:n.135+116dup
ENST00000606061.1:n.422dup
NM_000687.2:c.219+116dup NP_000678.1:n.219+116dup
NM_001161766.1:c.135+116dup NP_001155238.1:n.135+116dup
XM_005260316.3:c.135+116dup XP_005260373.1:n.135+116dup
XM_005260317.1:c.135+116dup XP_005260374.1:n.135+116dup
XM_011528656.1:c.135+116dup XP_011526958.1:n.135+116dup
XM_011528657.1:c.135+116dup XP_011526959.1:n.135+116dup
XM_011528658.1:c.135+116dup XP_011526960.1:n.135+116dup
XM_011528659.1:c.135+116dup XP_011526961.1:n.135+116dup
XM_011528660.1:c.135+116dup XP_011526962.1:n.135+116dup
NM_000687.3:c.219+116dup NP_000678.1:n.219+116dup
NM_001322084.1:c.135+116dup NP_001309013.1:n.135+116dup
NM_001322085.1:c.135+116dup NP_001309014.1:n.135+116dup
NM_001322086.1:c.225+116dup NP_001309015.1:n.225+116dup
NM_001362750.1:c.219+116dup NP_001349679.1:n.219+116dup
XM_005260317.2:c.135+116dup XP_005260374.1:n.135+116dup
XM_011528656.3:c.225+116dup XP_011526958.2:n.225+116dup
XM_011528657.2:c.225+116dup XP_011526959.2:n.225+116dup
XM_011528658.3:c.225+116dup XP_011526960.2:n.225+116dup
XM_017027709.2:c.219+116dup XP_016883198.1:n.219+116dup
XM_017027710.2:c.-206+116dup XP_016883199.1:n.-206+116dup
NM_000687.4:c.219+116dup MANE Select NP_000678.1:n.219+116dup
NM_001322084.2:c.135+116dup NP_001309013.1:n.135+116dup
NM_001322085.2:c.135+116dup NP_001309014.1:n.135+116dup
NM_001322086.2:c.225+116dup NP_001309015.1:n.225+116dup
NM_001362750.2:c.219+116dup NP_001349679.1:n.219+116dup
NM_001161766.2:c.135+116dup NP_001155238.1:n.135+116dup