Canonical Allele Identifier: CA1483222

Gene: SDCCAG8

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.243270259T>C , CM000663.2:g.243270259T>C	GRCh38
NC_000001.10:g.243433561T>C , CM000663.1:g.243433561T>C	GRCh37
NC_000001.9:g.241500184T>C	NCBI36
NG_027811.1:g.19255T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006642.5:c.220+2T>C MANE Select	NP_006633.1:n.220+2T>C
ENST00000366541.8:c.220+2T>C MANE Select	ENSP00000355499.3:n.220+2T>C
NM_001350246.1:c.-893+2T>C	NP_001337175.1:n.-893+2T>C
NM_001350246.2:c.-893+2T>C	NP_001337175.1:n.-893+2T>C
NM_001350247.1:c.-781+2T>C	NP_001337176.1:n.-781+2T>C
NM_001350247.2:c.-781+2T>C	NP_001337176.1:n.-781+2T>C
NM_001350248.1:c.220+2T>C	NP_001337177.1:n.220+2T>C
NM_001350248.2:c.220+2T>C	NP_001337177.1:n.220+2T>C
NM_001350249.1:c.-75+2T>C	NP_001337178.1:n.-75+2T>C
NM_001350249.2:c.-75+2T>C	NP_001337178.1:n.-75+2T>C
NM_001350251.1:c.-1154+2T>C	NP_001337180.1:n.-1154+2T>C
NM_001350251.2:c.-1154+2T>C	NP_001337180.1:n.-1154+2T>C
NM_006642.3:c.220+2T>C	NP_006633.1:n.220+2T>C
NM_006642.4:c.220+2T>C	NP_006633.1:n.220+2T>C
ENST00000366541.7:c.220+2T>C	ENSP00000355499.3:n.220+2T>C
ENST00000490065.5:n.373+2T>C
ENST00000491888.1:n.231+2T>C
XM_005273013.3:c.220+2T>C	XP_005273070.1:n.220+2T>C
XM_005273013.5:c.220+2T>C	XP_005273070.1:n.220+2T>C
XM_005273018.1:c.-75+2T>C	XP_005273075.1:n.-75+2T>C
XM_005273018.2:c.-75+2T>C	XP_005273075.1:n.-75+2T>C
XM_005273022.2:c.-319+2T>C	XP_005273079.1:n.-319+2T>C
XM_005273022.4:c.-319+2T>C	XP_005273079.1:n.-319+2T>C
XM_005273023.3:c.220+2T>C	XP_005273080.1:n.220+2T>C
XM_005273023.5:c.220+2T>C	XP_005273080.1:n.220+2T>C
XM_006711727.2:c.250+2T>C	XP_006711790.1:n.250+2T>C
XM_006711728.2:c.250+2T>C	XP_006711791.1:n.250+2T>C
XM_006711729.2:c.250+2T>C	XP_006711792.1:n.250+2T>C
XM_011544021.1:c.250+2T>C	XP_011542323.1:n.250+2T>C
XM_011544022.1:c.220+2T>C	XP_011542324.1:n.220+2T>C
XM_011544023.1:c.250+2T>C	XP_011542325.1:n.250+2T>C
XM_011544024.1:c.250+2T>C	XP_011542326.1:n.250+2T>C
XM_011544025.1:c.250+2T>C	XP_011542327.1:n.250+2T>C
XM_011544026.1:c.250+2T>C	XP_011542328.1:n.250+2T>C
XM_011544026.3:c.250+2T>C	XP_011542328.1:n.250+2T>C
XM_011544027.1:c.250+2T>C	XP_011542329.1:n.250+2T>C
XM_011544028.1:c.250+2T>C	XP_011542330.1:n.250+2T>C
XM_011544028.3:c.250+2T>C	XP_011542330.1:n.250+2T>C
XM_011544029.1:c.250+2T>C	XP_011542331.1:n.250+2T>C
XM_017000104.2:c.220+2T>C	XP_016855593.1:n.220+2T>C
XM_017000105.2:c.220+2T>C	XP_016855594.1:n.220+2T>C
XM_024452537.1:c.-75+2T>C	XP_024308305.1:n.-75+2T>C
XM_024452539.1:c.-75+2T>C	XP_024308307.1:n.-75+2T>C
XM_024452540.1:c.-75+2T>C	XP_024308308.1:n.-75+2T>C
XM_024452547.1:c.-75+2T>C	XP_024308315.1:n.-75+2T>C
XM_024452548.1:c.-75+2T>C	XP_024308316.1:n.-75+2T>C
XM_024452549.1:c.-75+2T>C	XP_024308317.1:n.-75+2T>C
XR_002958955.1:n.166+2T>C
XR_002958956.1:n.166+2T>C
XR_002958965.1:n.166+2T>C
XR_949128.1:n.274+2T>C