Canonical Allele Identifier: CA1483642

Gene: SDCCAG8

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.243344287G>C , CM000663.2:g.243344287G>C	GRCh38
NC_000001.10:g.243507589G>C , CM000663.1:g.243507589G>C	GRCh37
NC_000001.9:g.241574212G>C	NCBI36
NG_027811.1:g.93283G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006642.5:c.1429G>C MANE Select	NP_006633.1:p.Glu477Gln
ENST00000366541.8:c.1429G>C MANE Select	ENSP00000355499.3:p.Glu477Gln
NM_001350246.1:c.526G>C	NP_001337175.1:p.Glu176Gln
NM_001350246.2:c.526G>C	NP_001337175.1:p.Glu176Gln
NM_001350247.1:c.526G>C	NP_001337176.1:p.Glu176Gln
NM_001350247.2:c.526G>C	NP_001337176.1:p.Glu176Gln
NM_001350248.1:c.1525G>C	NP_001337177.1:p.Glu509Gln
NM_001350248.2:c.1525G>C	NP_001337177.1:p.Glu509Gln
NM_001350249.1:c.1135G>C	NP_001337178.1:p.Glu379Gln
NM_001350249.2:c.1135G>C	NP_001337178.1:p.Glu379Gln
NM_001350251.1:c.526G>C	NP_001337180.1:p.Glu176Gln
NM_001350251.2:c.526G>C	NP_001337180.1:p.Glu176Gln
NM_006642.3:c.1429G>C	NP_006633.1:p.Glu477Gln
NM_006642.4:c.1429G>C	NP_006633.1:p.Glu477Gln
ENST00000366541.7:c.1429G>C	ENSP00000355499.3:p.Glu477Gln
ENST00000435549.1:c.769G>C	ENSP00000410200.1:p.Glu257Gln
ENST00000493334.1:n.396G>C
XM_005273013.3:c.1300G>C	XP_005273070.1:p.Glu434Gln
XM_005273013.5:c.1300G>C	XP_005273070.1:p.Glu434Gln
XM_005273018.1:c.1006G>C	XP_005273075.1:p.Glu336Gln
XM_005273018.2:c.1006G>C	XP_005273075.1:p.Glu336Gln
XM_005273021.3:c.526G>C	XP_005273078.1:p.Glu176Gln
XM_005273022.2:c.508G>C	XP_005273079.1:p.Glu170Gln
XM_005273022.4:c.508G>C	XP_005273079.1:p.Glu170Gln
XM_006711727.2:c.1459G>C	XP_006711790.1:p.Glu487Gln
XM_006711728.2:c.1330G>C	XP_006711791.1:p.Glu444Gln
XM_006711729.2:c.1270G>C	XP_006711792.1:p.Glu424Gln
XM_011544021.1:c.1555G>C	XP_011542323.1:p.Glu519Gln
XM_011544022.1:c.1525G>C	XP_011542324.1:p.Glu509Gln
XM_011544023.1:c.1555G>C	XP_011542325.1:p.Glu519Gln
XM_011544024.1:c.1555G>C	XP_011542326.1:p.Glu519Gln
XM_011544025.1:c.1366G>C	XP_011542327.1:p.Glu456Gln
XM_011544026.1:c.1555G>C	XP_011542328.1:p.Glu519Gln
XM_011544026.3:c.1555G>C	XP_011542328.1:p.Glu519Gln
XM_011544027.1:c.1141G>C	XP_011542329.1:p.Glu381Gln
XM_011544028.1:c.1330G>C	XP_011542330.1:p.Glu444Gln
XM_011544028.3:c.1330G>C	XP_011542330.1:p.Glu444Gln
XM_011544030.1:c.484G>C	XP_011542332.1:p.Glu162Gln
XM_011544030.3:c.484G>C	XP_011542332.1:p.Glu162Gln
XM_017000104.2:c.1300G>C	XP_016855593.1:p.Glu434Gln
XM_017000105.2:c.1429G>C	XP_016855594.1:p.Glu477Gln
XM_024452537.1:c.1231G>C	XP_024308305.1:p.Glu411Gln
XM_024452539.1:c.1231G>C	XP_024308307.1:p.Glu411Gln
XM_024452540.1:c.1231G>C	XP_024308308.1:p.Glu411Gln
XM_024452547.1:c.1135G>C	XP_024308315.1:p.Glu379Gln
XM_024452548.1:c.1231G>C	XP_024308316.1:p.Glu411Gln
XM_024452549.1:c.1135G>C	XP_024308317.1:p.Glu379Gln
XR_002958955.1:n.1471G>C
XR_002958956.1:n.1471G>C
XR_002958965.1:n.1471G>C
XR_949128.1:n.1579G>C