Canonical Allele Identifier: CA345667838

Gene: SDCCAG8

Linked Data

• gnomAD v4: 1-243426514-A-T
• MyVariant Identifiers: chr1:g.243589816A>T (hg19) ; chr1:g.243426514A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.243426514A>T , CM000663.2:g.243426514A>T	GRCh38
NC_000001.10:g.243589816A>T , CM000663.1:g.243589816A>T	GRCh37
NC_000001.9:g.241656439A>T	NCBI36
NG_027811.1:g.175510A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366541.8:c.1941A>T MANE Select	ENSP00000355499.3:p.Glu647Asp
ENST00000366541.7:c.1941A>T	ENSP00000355499.3:p.Glu647Asp
ENST00000435549.1:c.1044A>T	ENSP00000410200.1:p.Glu348Asp
ENST00000463042.1:n.148A>T
NM_006642.3:c.1941A>T	NP_006633.1:p.Glu647Asp
XM_005273013.3:c.1812A>T	XP_005273070.1:p.Glu604Asp
XM_005273018.1:c.1518A>T	XP_005273075.1:p.Glu506Asp
XM_005273021.3:c.1038A>T	XP_005273078.1:p.Glu346Asp
XM_005273022.2:c.1020A>T	XP_005273079.1:p.Glu340Asp
XM_006711727.2:c.1971A>T	XP_006711790.1:p.Glu657Asp
XM_006711728.2:c.1842A>T	XP_006711791.1:p.Glu614Asp
XM_006711729.2:c.1782A>T	XP_006711792.1:p.Glu594Asp
XM_011544021.1:c.2067A>T	XP_011542323.1:p.Glu689Asp
XM_011544022.1:c.2037A>T	XP_011542324.1:p.Glu679Asp
XM_011544023.1:c.2067A>T	XP_011542325.1:p.Glu689Asp
XM_011544024.1:c.2067A>T	XP_011542326.1:p.Glu689Asp
XM_011544025.1:c.1878A>T	XP_011542327.1:p.Glu626Asp
XM_011544026.1:c.1830A>T	XP_011542328.1:p.Glu610Asp
XM_011544027.1:c.1653A>T	XP_011542329.1:p.Glu551Asp
XM_011544028.1:c.1605A>T	XP_011542330.1:p.Glu535Asp
XM_011544030.1:c.996A>T	XP_011542332.1:p.Glu332Asp
XR_949128.1:n.2091A>T
NM_001350246.1:c.1038A>T	NP_001337175.1:p.Glu346Asp
NM_001350247.1:c.1038A>T	NP_001337176.1:p.Glu346Asp
NM_001350248.1:c.2037A>T	NP_001337177.1:p.Glu679Asp
NM_001350249.1:c.1647A>T	NP_001337178.1:p.Glu549Asp
NM_001350251.1:c.1038A>T	NP_001337180.1:p.Glu346Asp
NM_006642.4:c.1941A>T	NP_006633.1:p.Glu647Asp
XM_005273013.5:c.1812A>T	XP_005273070.1:p.Glu604Asp
XM_005273018.2:c.1518A>T	XP_005273075.1:p.Glu506Asp
XM_005273022.4:c.1020A>T	XP_005273079.1:p.Glu340Asp
XM_011544026.3:c.1830A>T	XP_011542328.1:p.Glu610Asp
XM_011544028.3:c.1605A>T	XP_011542330.1:p.Glu535Asp
XM_011544030.3:c.996A>T	XP_011542332.1:p.Glu332Asp
XM_017000104.2:c.1812A>T	XP_016855593.1:p.Glu604Asp
XM_017000105.2:c.1704A>T	XP_016855594.1:p.Glu568Asp
XM_024452537.1:c.1743A>T	XP_024308305.1:p.Glu581Asp
XM_024452539.1:c.1743A>T	XP_024308307.1:p.Glu581Asp
XM_024452540.1:c.1743A>T	XP_024308308.1:p.Glu581Asp
XM_024452547.1:c.1647A>T	XP_024308315.1:p.Glu549Asp
XM_024452548.1:c.1743A>T	XP_024308316.1:p.Glu581Asp
XM_024452549.1:c.1410A>T	XP_024308317.1:p.Glu470Asp
XR_002958955.1:n.1983A>T
XR_002958956.1:n.1983A>T
XR_002958965.1:n.1874A>T
NM_006642.5:c.1941A>T MANE Select	NP_006633.1:p.Glu647Asp
NM_001350246.2:c.1038A>T	NP_001337175.1:p.Glu346Asp
NM_001350247.2:c.1038A>T	NP_001337176.1:p.Glu346Asp
NM_001350248.2:c.2037A>T	NP_001337177.1:p.Glu679Asp
NM_001350249.2:c.1647A>T	NP_001337178.1:p.Glu549Asp
NM_001350251.2:c.1038A>T	NP_001337180.1:p.Glu346Asp