Canonical Allele Identifier: CA345667416

Gene: SDCCAG8

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.243417986T>A , CM000663.2:g.243417986T>A	GRCh38
NC_000001.10:g.243581288T>A , CM000663.1:g.243581288T>A	GRCh37
NC_000001.9:g.241647911T>A	NCBI36
NG_027811.1:g.166982T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006642.5:c.1763T>A MANE Select	NP_006633.1:p.Leu588Ter
ENST00000366541.8:c.1763T>A MANE Select	ENSP00000355499.3:p.Leu588Ter
NM_001350246.1:c.860T>A	NP_001337175.1:p.Leu287Ter
NM_001350246.2:c.860T>A	NP_001337175.1:p.Leu287Ter
NM_001350247.1:c.860T>A	NP_001337176.1:p.Leu287Ter
NM_001350247.2:c.860T>A	NP_001337176.1:p.Leu287Ter
NM_001350248.1:c.1859T>A	NP_001337177.1:p.Leu620Ter
NM_001350248.2:c.1859T>A	NP_001337177.1:p.Leu620Ter
NM_001350249.1:c.1469T>A	NP_001337178.1:p.Leu490Ter
NM_001350249.2:c.1469T>A	NP_001337178.1:p.Leu490Ter
NM_001350251.1:c.860T>A	NP_001337180.1:p.Leu287Ter
NM_001350251.2:c.860T>A	NP_001337180.1:p.Leu287Ter
NM_006642.3:c.1763T>A	NP_006633.1:p.Leu588Ter
NM_006642.4:c.1763T>A	NP_006633.1:p.Leu588Ter
ENST00000366541.7:c.1763T>A	ENSP00000355499.3:p.Leu588Ter
ENST00000435549.1:c.957-8441T>A	ENSP00000410200.1:n.957-8441T>A
XM_005273013.3:c.1634T>A	XP_005273070.1:p.Leu545Ter
XM_005273013.5:c.1634T>A	XP_005273070.1:p.Leu545Ter
XM_005273018.1:c.1340T>A	XP_005273075.1:p.Leu447Ter
XM_005273018.2:c.1340T>A	XP_005273075.1:p.Leu447Ter
XM_005273021.3:c.860T>A	XP_005273078.1:p.Leu287Ter
XM_005273022.2:c.842T>A	XP_005273079.1:p.Leu281Ter
XM_005273022.4:c.842T>A	XP_005273079.1:p.Leu281Ter
XM_006711727.2:c.1793T>A	XP_006711790.1:p.Leu598Ter
XM_006711728.2:c.1664T>A	XP_006711791.1:p.Leu555Ter
XM_006711729.2:c.1604T>A	XP_006711792.1:p.Leu535Ter
XM_011544021.1:c.1889T>A	XP_011542323.1:p.Leu630Ter
XM_011544022.1:c.1859T>A	XP_011542324.1:p.Leu620Ter
XM_011544023.1:c.1889T>A	XP_011542325.1:p.Leu630Ter
XM_011544024.1:c.1889T>A	XP_011542326.1:p.Leu630Ter
XM_011544025.1:c.1700T>A	XP_011542327.1:p.Leu567Ter
XM_011544026.1:c.1743-8441T>A	XP_011542328.1:n.1743-8441T>A
XM_011544026.3:c.1743-8441T>A	XP_011542328.1:n.1743-8441T>A
XM_011544027.1:c.1475T>A	XP_011542329.1:p.Leu492Ter
XM_011544028.1:c.1518-8441T>A	XP_011542330.1:n.1518-8441T>A
XM_011544028.3:c.1518-8441T>A	XP_011542330.1:n.1518-8441T>A
XM_011544030.1:c.818T>A	XP_011542332.1:p.Leu273Ter
XM_011544030.3:c.818T>A	XP_011542332.1:p.Leu273Ter
XM_017000104.2:c.1634T>A	XP_016855593.1:p.Leu545Ter
XM_017000105.2:c.1617-8441T>A	XP_016855594.1:n.1617-8441T>A
XM_024452537.1:c.1565T>A	XP_024308305.1:p.Leu522Ter
XM_024452539.1:c.1565T>A	XP_024308307.1:p.Leu522Ter
XM_024452540.1:c.1565T>A	XP_024308308.1:p.Leu522Ter
XM_024452547.1:c.1469T>A	XP_024308315.1:p.Leu490Ter
XM_024452548.1:c.1565T>A	XP_024308316.1:p.Leu522Ter
XM_024452549.1:c.1323-8441T>A	XP_024308317.1:n.1323-8441T>A
XR_002958955.1:n.1805T>A
XR_002958956.1:n.1805T>A
XR_002958965.1:n.1786+2157T>A
XR_949128.1:n.1913T>A