Canonical Allele Identifier: CA157990842
Community Standard Title: NM_021116.4(ADCY1):c.1148+197C>T
Gene: ADCY1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.45648994C>T , CM000669.2:g.45648994C>T GRCh38
NC_000007.13:g.45688593C>T , CM000669.1:g.45688593C>T GRCh37
NC_000007.12:g.45655118C>T NCBI36
NG_034198.1:g.79855C>T

Transcript Alleles

HGVS Amino-acid Change
NM_021116.4:c.1148+197C>T MANE Select NP_066939.1:n.1148+197C>T
ENST00000297323.12:c.1148+197C>T MANE Select ENSP00000297323.7:n.1148+197C>T
NM_001281768.1:c.473+197C>T NP_001268697.1:n.473+197C>T
NM_001281768.2:c.473+197C>T NP_001268697.1:n.473+197C>T
NM_021116.2:c.1148+197C>T NP_066939.1:n.1148+197C>T
NM_021116.3:c.1148+197C>T NP_066939.1:n.1148+197C>T
ENST00000297323.11:c.1148+197C>T ENSP00000297323.7:n.1148+197C>T
ENST00000432715.5:c.473+197C>T ENSP00000392721.1:n.473+197C>T
ENST00000621543.1:c.473+197C>T ENSP00000479770.1:n.473+197C>T
ENST00000646653.1:n.89+197C>T
XM_005249584.2:c.1148+197C>T XP_005249641.1:n.1148+197C>T
XM_005249584.3:c.1148+197C>T XP_005249641.1:n.1148+197C>T
XM_005249585.1:c.1148+197C>T XP_005249642.1:n.1148+197C>T
XM_005249585.2:c.1148+197C>T XP_005249642.1:n.1148+197C>T