Canonical Allele Identifier: CA2682692570
Community Standard Title: NM_021116.4(ADCY1):c.790-147G>T
Gene: ADCY1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.45610232G>T , CM000669.2:g.45610232G>T GRCh38
NC_000007.13:g.45649831G>T , CM000669.1:g.45649831G>T GRCh37
NC_000007.12:g.45616356G>T NCBI36
NG_034198.1:g.41093G>T

Transcript Alleles

HGVS Amino-acid Change
NM_021116.4:c.790-147G>T MANE Select NP_066939.1:n.790-147G>T
ENST00000297323.12:c.790-147G>T MANE Select ENSP00000297323.7:n.790-147G>T
NM_001281768.1:c.115-147G>T NP_001268697.1:n.115-147G>T
NM_001281768.2:c.115-147G>T NP_001268697.1:n.115-147G>T
NM_021116.2:c.790-147G>T NP_066939.1:n.790-147G>T
NM_021116.3:c.790-147G>T NP_066939.1:n.790-147G>T
ENST00000297323.11:c.790-147G>T ENSP00000297323.7:n.790-147G>T
ENST00000432715.5:c.115-147G>T ENSP00000392721.1:n.115-147G>T
ENST00000621543.1:c.115-147G>T ENSP00000479770.1:n.115-147G>T
XM_005249584.2:c.790-147G>T XP_005249641.1:n.790-147G>T
XM_005249584.3:c.790-147G>T XP_005249641.1:n.790-147G>T
XM_005249585.1:c.790-147G>T XP_005249642.1:n.790-147G>T
XM_005249585.2:c.790-147G>T XP_005249642.1:n.790-147G>T