Canonical Allele Identifier: CA10584088
Community Standard Title: NM_015270.5(ADCY6):c.2975A>G (p.Tyr992Cys)
Gene: ADCY6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48771786T>C , CM000674.2:g.48771786T>C GRCh38
NC_000012.11:g.49165569T>C , CM000674.1:g.49165569T>C GRCh37
NC_000012.10:g.47451836T>C NCBI36
NG_042166.1:g.22311A>G

Transcript Alleles

HGVS Amino-acid Change
NM_015270.5:c.2975A>G MANE Select NP_056085.1:p.Tyr992Cys
ENST00000357869.8:c.2975A>G MANE Select ENSP00000350536.4:p.Tyr992Cys
NM_001390830.1:c.2816A>G NP_001377759.1:p.Tyr939Cys
NM_001390831.1:c.2975A>G NP_001377760.1:p.Tyr992Cys
NM_015270.3:c.2975A>G NP_056085.1:p.Tyr992Cys
NM_015270.4:c.2975A>G NP_056085.1:p.Tyr992Cys
NM_020983.2:c.2816A>G NP_066193.1:p.Tyr939Cys
ENST00000307885.4:c.2975A>G ENSP00000311405.4:p.Tyr992Cys
ENST00000357869.7:c.2816A>G ENSP00000350536.3:p.Tyr939Cys
ENST00000547260.5:n.1090A>G
ENST00000548351.1:n.533A>G
ENST00000550422.5:c.2816A>G ENSP00000446730.1:p.Tyr939Cys
ENST00000552099.5:n.1165A>G
XM_006719210.2:c.2975A>G XP_006719273.1:p.Tyr992Cys
XM_006719210.4:c.2975A>G XP_006719273.1:p.Tyr992Cys
XM_011537810.1:c.2672A>G XP_011536112.1:p.Tyr891Cys
XM_011537811.1:c.2513A>G XP_011536113.1:p.Tyr838Cys
XM_017018743.1:c.2672A>G XP_016874232.1:p.Tyr891Cys
XR_001748565.1:n.2975A>G
XR_944483.1:n.3012A>G