Canonical Allele Identifier: CA345479194

Gene: SDCCAG8

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.243308097T>A , CM000663.2:g.243308097T>A	GRCh38
NC_000001.10:g.243471399T>A , CM000663.1:g.243471399T>A	GRCh37
NC_000001.9:g.241538022T>A	NCBI36
NG_027811.1:g.57093T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006642.5:c.849T>A MANE Select	NP_006633.1:p.Cys283Ter
ENST00000366541.8:c.849T>A MANE Select	ENSP00000355499.3:p.Cys283Ter
NM_001350246.1:c.-55T>A	NP_001337175.1:n.-55T>A
NM_001350246.2:c.-55T>A	NP_001337175.1:n.-55T>A
NM_001350247.1:c.-55T>A	NP_001337176.1:n.-55T>A
NM_001350247.2:c.-55T>A	NP_001337176.1:n.-55T>A
NM_001350248.1:c.945T>A	NP_001337177.1:p.Cys315Ter
NM_001350248.2:c.945T>A	NP_001337177.1:p.Cys315Ter
NM_001350249.1:c.555T>A	NP_001337178.1:p.Cys185Ter
NM_001350249.2:c.555T>A	NP_001337178.1:p.Cys185Ter
NM_001350251.1:c.-55T>A	NP_001337180.1:n.-55T>A
NM_001350251.2:c.-55T>A	NP_001337180.1:n.-55T>A
NM_006642.3:c.849T>A	NP_006633.1:p.Cys283Ter
NM_006642.4:c.849T>A	NP_006633.1:p.Cys283Ter
ENST00000366541.7:c.849T>A	ENSP00000355499.3:p.Cys283Ter
ENST00000435549.1:c.189T>A	ENSP00000410200.1:p.Cys63Ter
ENST00000463012.1:n.209T>A
XM_005273013.3:c.720T>A	XP_005273070.1:p.Cys240Ter
XM_005273013.5:c.720T>A	XP_005273070.1:p.Cys240Ter
XM_005273018.1:c.426T>A	XP_005273075.1:p.Cys142Ter
XM_005273018.2:c.426T>A	XP_005273075.1:p.Cys142Ter
XM_005273021.3:c.-55T>A	XP_005273078.1:n.-55T>A
XM_005273022.2:c.9-8658T>A	XP_005273079.1:n.9-8658T>A
XM_005273022.4:c.9-8658T>A	XP_005273079.1:n.9-8658T>A
XM_005273023.3:c.849T>A	XP_005273080.1:p.Cys283Ter
XM_005273023.5:c.849T>A	XP_005273080.1:p.Cys283Ter
XM_006711727.2:c.879T>A	XP_006711790.1:p.Cys293Ter
XM_006711728.2:c.750T>A	XP_006711791.1:p.Cys250Ter
XM_006711729.2:c.770+3320T>A	XP_006711792.1:n.770+3320T>A
XM_011544021.1:c.975T>A	XP_011542323.1:p.Cys325Ter
XM_011544022.1:c.945T>A	XP_011542324.1:p.Cys315Ter
XM_011544023.1:c.975T>A	XP_011542325.1:p.Cys325Ter
XM_011544024.1:c.975T>A	XP_011542326.1:p.Cys325Ter
XM_011544025.1:c.866+3320T>A	XP_011542327.1:n.866+3320T>A
XM_011544026.1:c.975T>A	XP_011542328.1:p.Cys325Ter
XM_011544026.3:c.975T>A	XP_011542328.1:p.Cys325Ter
XM_011544027.1:c.641+3320T>A	XP_011542329.1:n.641+3320T>A
XM_011544028.1:c.750T>A	XP_011542330.1:p.Cys250Ter
XM_011544028.3:c.750T>A	XP_011542330.1:p.Cys250Ter
XM_011544029.1:c.975T>A	XP_011542331.1:p.Cys325Ter
XM_017000104.2:c.720T>A	XP_016855593.1:p.Cys240Ter
XM_017000105.2:c.849T>A	XP_016855594.1:p.Cys283Ter
XM_024452537.1:c.651T>A	XP_024308305.1:p.Cys217Ter
XM_024452539.1:c.651T>A	XP_024308307.1:p.Cys217Ter
XM_024452540.1:c.651T>A	XP_024308308.1:p.Cys217Ter
XM_024452547.1:c.555T>A	XP_024308315.1:p.Cys185Ter
XM_024452548.1:c.651T>A	XP_024308316.1:p.Cys217Ter
XM_024452549.1:c.555T>A	XP_024308317.1:p.Cys185Ter
XR_002958955.1:n.891T>A
XR_002958956.1:n.891T>A
XR_002958965.1:n.891T>A
XR_949128.1:n.999T>A