Canonical Allele Identifier: CA1483333
Community Standard Title: NM_006642.5(SDCCAG8):c.546+1G>A
Gene: SDCCAG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.243286398G>A , CM000663.2:g.243286398G>A GRCh38
NC_000001.10:g.243449700G>A , CM000663.1:g.243449700G>A GRCh37
NC_000001.9:g.241516323G>A NCBI36
NG_027811.1:g.35394G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006642.5:c.546+1G>A MANE Select NP_006633.1:n.546+1G>A
ENST00000366541.8:c.546+1G>A MANE Select ENSP00000355499.3:n.546+1G>A
NM_001350246.1:c.-567+1G>A NP_001337175.1:n.-567+1G>A
NM_001350246.2:c.-567+1G>A NP_001337175.1:n.-567+1G>A
NM_001350247.1:c.-455+1G>A NP_001337176.1:n.-455+1G>A
NM_001350247.2:c.-455+1G>A NP_001337176.1:n.-455+1G>A
NM_001350248.1:c.546+1G>A NP_001337177.1:n.546+1G>A
NM_001350248.2:c.546+1G>A NP_001337177.1:n.546+1G>A
NM_001350249.1:c.252+1G>A NP_001337178.1:n.252+1G>A
NM_001350249.2:c.252+1G>A NP_001337178.1:n.252+1G>A
NM_001350251.1:c.-828+1G>A NP_001337180.1:n.-828+1G>A
NM_001350251.2:c.-828+1G>A NP_001337180.1:n.-828+1G>A
NM_006642.3:c.546+1G>A NP_006633.1:n.546+1G>A
NM_006642.4:c.546+1G>A NP_006633.1:n.546+1G>A
ENST00000366541.7:c.546+1G>A ENSP00000355499.3:n.546+1G>A
ENST00000435549.1:c.15+1G>A ENSP00000410200.1:n.15+1G>A
ENST00000476722.6:c.44+1G>A
ENST00000482234.1:n.279+1G>A
XM_005273013.3:c.546+1G>A XP_005273070.1:n.546+1G>A
XM_005273013.5:c.546+1G>A XP_005273070.1:n.546+1G>A
XM_005273018.1:c.252+1G>A XP_005273075.1:n.252+1G>A
XM_005273018.2:c.252+1G>A XP_005273075.1:n.252+1G>A
XM_005273022.2:c.8+1G>A XP_005273079.1:n.8+1G>A
XM_005273022.4:c.8+1G>A XP_005273079.1:n.8+1G>A
XM_005273023.3:c.546+1G>A XP_005273080.1:n.546+1G>A
XM_005273023.5:c.546+1G>A XP_005273080.1:n.546+1G>A
XM_006711727.2:c.576+1G>A XP_006711790.1:n.576+1G>A
XM_006711728.2:c.576+1G>A XP_006711791.1:n.576+1G>A
XM_006711729.2:c.576+1G>A XP_006711792.1:n.576+1G>A
XM_011544021.1:c.576+1G>A XP_011542323.1:n.576+1G>A
XM_011544022.1:c.546+1G>A XP_011542324.1:n.546+1G>A
XM_011544023.1:c.576+1G>A XP_011542325.1:n.576+1G>A
XM_011544024.1:c.576+1G>A XP_011542326.1:n.576+1G>A
XM_011544025.1:c.576+1G>A XP_011542327.1:n.576+1G>A
XM_011544026.1:c.576+1G>A XP_011542328.1:n.576+1G>A
XM_011544026.3:c.576+1G>A XP_011542328.1:n.576+1G>A
XM_011544027.1:c.576+1G>A XP_011542329.1:n.576+1G>A
XM_011544028.1:c.576+1G>A XP_011542330.1:n.576+1G>A
XM_011544028.3:c.576+1G>A XP_011542330.1:n.576+1G>A
XM_011544029.1:c.576+1G>A XP_011542331.1:n.576+1G>A
XM_017000104.2:c.546+1G>A XP_016855593.1:n.546+1G>A
XM_017000105.2:c.546+1G>A XP_016855594.1:n.546+1G>A
XM_024452537.1:c.252+1G>A XP_024308305.1:n.252+1G>A
XM_024452539.1:c.252+1G>A XP_024308307.1:n.252+1G>A
XM_024452540.1:c.252+1G>A XP_024308308.1:n.252+1G>A
XM_024452547.1:c.252+1G>A XP_024308315.1:n.252+1G>A
XM_024452548.1:c.252+1G>A XP_024308316.1:n.252+1G>A
XM_024452549.1:c.252+1G>A XP_024308317.1:n.252+1G>A
XR_002958955.1:n.492+1G>A
XR_002958956.1:n.492+1G>A
XR_002958965.1:n.492+1G>A
XR_949128.1:n.600+1G>A