Canonical Allele Identifier: CA2361142800
Gene: AHCY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34301856A= , CM000682.2:g.34301856A= GRCh38
NC_000020.10:g.32889662A= , CM000682.1:g.32889662A= GRCh37
NC_000020.9:g.32353323A= NCBI36
NG_012630.1:g.14947T=
NG_012630.2:g.14947T=

Transcript Alleles

HGVS Amino-acid change
ENST00000217426.7:c.28+1387T= MANE Select ENSP00000217426.2:n.28+1387T=
ENST00000217426.6:c.28+1387T= ENSP00000217426.2:n.28+1387T=
ENST00000468908.1:n.93T=
ENST00000473516.1:n.331+489T=
ENST00000480653.5:n.75+1387T=
ENST00000538132.1:c.-56-6271T= ENSP00000442820.1:n.-56-6271T=
ENST00000606061.1:n.115+1387T=
NM_000687.2:c.28+1387T= NP_000678.1:n.28+1387T=
NM_001161766.1:c.-56-6271T= NP_001155238.1:n.-56-6271T=
XM_005260316.3:c.-155T= XP_005260373.1:n.-155T=
XM_005260317.1:c.-57+760T= XP_005260374.1:n.-57+760T=
XM_011528659.1:c.-56-6271T= XP_011526961.1:n.-56-6271T=
XM_011528660.1:c.-57+80T= XP_011526962.1:n.-57+80T=
NM_000687.3:c.28+1387T= NP_000678.1:n.28+1387T=
NM_001322084.1:c.-155T= NP_001309013.1:n.-155T=
NM_001322085.1:c.-57+80T= NP_001309014.1:n.-57+80T=
NM_001322086.1:c.-76T= NP_001309015.1:n.-76T=
NM_001362750.1:c.28+1387T= NP_001349679.1:n.28+1387T=
XM_005260317.2:c.-57+760T= XP_005260374.1:n.-57+760T=
XM_011528656.3:c.-76T= XP_011526958.2:n.-76T=
XM_011528657.2:c.-76T= XP_011526959.2:n.-76T=
XM_011528658.3:c.-76T= XP_011526960.2:n.-76T=
XM_017027709.2:c.28+1387T= XP_016883198.1:n.28+1387T=
XM_017027710.2:c.-397+1387T= XP_016883199.1:n.-397+1387T=
NM_000687.4:c.28+1387T= MANE Select NP_000678.1:n.28+1387T=
NM_001322084.2:c.-155T= NP_001309013.1:n.-155T=
NM_001322085.2:c.-57+80T= NP_001309014.1:n.-57+80T=
NM_001322086.2:c.-76T= NP_001309015.1:n.-76T=
NM_001362750.2:c.28+1387T= NP_001349679.1:n.28+1387T=
NM_001161766.2:c.-56-6271T= NP_001155238.1:n.-56-6271T=