Canonical Allele Identifier: CA1139656728
Community Standard Title: NM_006642.5(SDCCAG8):c.420+12A>G
Gene: SDCCAG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.243274668A>G , CM000663.2:g.243274668A>G GRCh38
NC_000001.10:g.243437970A>G , CM000663.1:g.243437970A>G GRCh37
NC_000001.9:g.241504593A>G NCBI36
NG_027811.1:g.23664A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006642.5:c.420+12A>G MANE Select NP_006633.1:n.420+12A>G
ENST00000366541.8:c.420+12A>G MANE Select ENSP00000355499.3:n.420+12A>G
NM_001350246.1:c.-693+12A>G NP_001337175.1:n.-693+12A>G
NM_001350246.2:c.-693+12A>G NP_001337175.1:n.-693+12A>G
NM_001350247.1:c.-581+12A>G NP_001337176.1:n.-581+12A>G
NM_001350247.2:c.-581+12A>G NP_001337176.1:n.-581+12A>G
NM_001350248.1:c.420+12A>G NP_001337177.1:n.420+12A>G
NM_001350248.2:c.420+12A>G NP_001337177.1:n.420+12A>G
NM_001350249.1:c.126+12A>G NP_001337178.1:n.126+12A>G
NM_001350249.2:c.126+12A>G NP_001337178.1:n.126+12A>G
NM_001350251.1:c.-954+12A>G NP_001337180.1:n.-954+12A>G
NM_001350251.2:c.-954+12A>G NP_001337180.1:n.-954+12A>G
NM_006642.3:c.420+12A>G NP_006633.1:n.420+12A>G
NM_006642.4:c.420+12A>G NP_006633.1:n.420+12A>G
ENST00000366541.7:c.420+12A>G ENSP00000355499.3:n.420+12A>G
ENST00000482234.1:n.153+12A>G
ENST00000490065.5:n.573+12A>G
XM_005273013.3:c.420+12A>G XP_005273070.1:n.420+12A>G
XM_005273013.5:c.420+12A>G XP_005273070.1:n.420+12A>G
XM_005273018.1:c.126+12A>G XP_005273075.1:n.126+12A>G
XM_005273018.2:c.126+12A>G XP_005273075.1:n.126+12A>G
XM_005273022.2:c.-119+12A>G XP_005273079.1:n.-119+12A>G
XM_005273022.4:c.-119+12A>G XP_005273079.1:n.-119+12A>G
XM_005273023.3:c.420+12A>G XP_005273080.1:n.420+12A>G
XM_005273023.5:c.420+12A>G XP_005273080.1:n.420+12A>G
XM_006711727.2:c.450+12A>G XP_006711790.1:n.450+12A>G
XM_006711728.2:c.450+12A>G XP_006711791.1:n.450+12A>G
XM_006711729.2:c.450+12A>G XP_006711792.1:n.450+12A>G
XM_011544021.1:c.450+12A>G XP_011542323.1:n.450+12A>G
XM_011544022.1:c.420+12A>G XP_011542324.1:n.420+12A>G
XM_011544023.1:c.450+12A>G XP_011542325.1:n.450+12A>G
XM_011544024.1:c.450+12A>G XP_011542326.1:n.450+12A>G
XM_011544025.1:c.450+12A>G XP_011542327.1:n.450+12A>G
XM_011544026.1:c.450+12A>G XP_011542328.1:n.450+12A>G
XM_011544026.3:c.450+12A>G XP_011542328.1:n.450+12A>G
XM_011544027.1:c.450+12A>G XP_011542329.1:n.450+12A>G
XM_011544028.1:c.450+12A>G XP_011542330.1:n.450+12A>G
XM_011544028.3:c.450+12A>G XP_011542330.1:n.450+12A>G
XM_011544029.1:c.450+12A>G XP_011542331.1:n.450+12A>G
XM_017000104.2:c.420+12A>G XP_016855593.1:n.420+12A>G
XM_017000105.2:c.420+12A>G XP_016855594.1:n.420+12A>G
XM_024452537.1:c.126+12A>G XP_024308305.1:n.126+12A>G
XM_024452539.1:c.126+12A>G XP_024308307.1:n.126+12A>G
XM_024452540.1:c.126+12A>G XP_024308308.1:n.126+12A>G
XM_024452547.1:c.126+12A>G XP_024308315.1:n.126+12A>G
XM_024452548.1:c.126+12A>G XP_024308316.1:n.126+12A>G
XM_024452549.1:c.126+12A>G XP_024308317.1:n.126+12A>G
XR_002958955.1:n.366+12A>G
XR_002958956.1:n.366+12A>G
XR_002958965.1:n.366+12A>G
XR_949128.1:n.474+12A>G