Canonical Allele Identifier: CA345475846

Gene: SDCCAG8

Linked Data

• gnomAD v4: 1-243344238-G-T
• MyVariant Identifiers: chr1:g.243507540G>T (hg19) ; chr1:g.243344238G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.243344238G>T , CM000663.2:g.243344238G>T	GRCh38
NC_000001.10:g.243507540G>T , CM000663.1:g.243507540G>T	GRCh37
NC_000001.9:g.241574163G>T	NCBI36
NG_027811.1:g.93234G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366541.8:c.1380G>T MANE Select	ENSP00000355499.3:p.Gln460His
ENST00000366541.7:c.1380G>T	ENSP00000355499.3:p.Gln460His
ENST00000435549.1:c.720G>T	ENSP00000410200.1:p.Gln240His
ENST00000493334.1:n.347G>T
NM_006642.3:c.1380G>T	NP_006633.1:p.Gln460His
XM_005273013.3:c.1251G>T	XP_005273070.1:p.Gln417His
XM_005273018.1:c.957G>T	XP_005273075.1:p.Gln319His
XM_005273021.3:c.477G>T	XP_005273078.1:p.Gln159His
XM_005273022.2:c.459G>T	XP_005273079.1:p.Gln153His
XM_006711727.2:c.1410G>T	XP_006711790.1:p.Gln470His
XM_006711728.2:c.1281G>T	XP_006711791.1:p.Gln427His
XM_006711729.2:c.1221G>T	XP_006711792.1:p.Gln407His
XM_011544021.1:c.1506G>T	XP_011542323.1:p.Gln502His
XM_011544022.1:c.1476G>T	XP_011542324.1:p.Gln492His
XM_011544023.1:c.1506G>T	XP_011542325.1:p.Gln502His
XM_011544024.1:c.1506G>T	XP_011542326.1:p.Gln502His
XM_011544025.1:c.1317G>T	XP_011542327.1:p.Gln439His
XM_011544026.1:c.1506G>T	XP_011542328.1:p.Gln502His
XM_011544027.1:c.1092G>T	XP_011542329.1:p.Gln364His
XM_011544028.1:c.1281G>T	XP_011542330.1:p.Gln427His
XM_011544030.1:c.435G>T	XP_011542332.1:p.Gln145His
XR_949128.1:n.1530G>T
NM_001350246.1:c.477G>T	NP_001337175.1:p.Gln159His
NM_001350247.1:c.477G>T	NP_001337176.1:p.Gln159His
NM_001350248.1:c.1476G>T	NP_001337177.1:p.Gln492His
NM_001350249.1:c.1086G>T	NP_001337178.1:p.Gln362His
NM_001350251.1:c.477G>T	NP_001337180.1:p.Gln159His
NM_006642.4:c.1380G>T	NP_006633.1:p.Gln460His
XM_005273013.5:c.1251G>T	XP_005273070.1:p.Gln417His
XM_005273018.2:c.957G>T	XP_005273075.1:p.Gln319His
XM_005273022.4:c.459G>T	XP_005273079.1:p.Gln153His
XM_011544026.3:c.1506G>T	XP_011542328.1:p.Gln502His
XM_011544028.3:c.1281G>T	XP_011542330.1:p.Gln427His
XM_011544030.3:c.435G>T	XP_011542332.1:p.Gln145His
XM_017000104.2:c.1251G>T	XP_016855593.1:p.Gln417His
XM_017000105.2:c.1380G>T	XP_016855594.1:p.Gln460His
XM_024452537.1:c.1182G>T	XP_024308305.1:p.Gln394His
XM_024452539.1:c.1182G>T	XP_024308307.1:p.Gln394His
XM_024452540.1:c.1182G>T	XP_024308308.1:p.Gln394His
XM_024452547.1:c.1086G>T	XP_024308315.1:p.Gln362His
XM_024452548.1:c.1182G>T	XP_024308316.1:p.Gln394His
XM_024452549.1:c.1086G>T	XP_024308317.1:p.Gln362His
XR_002958955.1:n.1422G>T
XR_002958956.1:n.1422G>T
XR_002958965.1:n.1422G>T
NM_006642.5:c.1380G>T MANE Select	NP_006633.1:p.Gln460His
NM_001350246.2:c.477G>T	NP_001337175.1:p.Gln159His
NM_001350247.2:c.477G>T	NP_001337176.1:p.Gln159His
NM_001350248.2:c.1476G>T	NP_001337177.1:p.Gln492His
NM_001350249.2:c.1086G>T	NP_001337178.1:p.Gln362His
NM_001350251.2:c.477G>T	NP_001337180.1:p.Gln159His