Canonical Allele Identifier: CA424346840

Gene: SDCCAG8

Linked Data

• dbSNP Id: rs1219915566
• gnomAD v2: 1-243589732-T-C
• MyVariant Identifiers: chr1:g.243589732T>C (hg19) ; chr1:g.243426430T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.243426430T>C , CM000663.2:g.243426430T>C	GRCh38
NC_000001.10:g.243589732T>C , CM000663.1:g.243589732T>C	GRCh37
NC_000001.9:g.241656355T>C	NCBI36
NG_027811.1:g.175426T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366541.8:c.1857T>C MANE Select	ENSP00000355499.3:p.Ser619=
ENST00000366541.7:c.1857T>C	ENSP00000355499.3:p.Ser619=
ENST00000435549.1:c.960T>C	ENSP00000410200.1:p.Ser320=
ENST00000463042.1:n.64T>C
NM_006642.3:c.1857T>C	NP_006633.1:p.Ser619=
XM_005273013.3:c.1728T>C	XP_005273070.1:p.Ser576=
XM_005273018.1:c.1434T>C	XP_005273075.1:p.Ser478=
XM_005273021.3:c.954T>C	XP_005273078.1:p.Ser318=
XM_005273022.2:c.936T>C	XP_005273079.1:p.Ser312=
XM_006711727.2:c.1887T>C	XP_006711790.1:p.Ser629=
XM_006711728.2:c.1758T>C	XP_006711791.1:p.Ser586=
XM_006711729.2:c.1698T>C	XP_006711792.1:p.Ser566=
XM_011544021.1:c.1983T>C	XP_011542323.1:p.Ser661=
XM_011544022.1:c.1953T>C	XP_011542324.1:p.Ser651=
XM_011544023.1:c.1983T>C	XP_011542325.1:p.Ser661=
XM_011544024.1:c.1983T>C	XP_011542326.1:p.Ser661=
XM_011544025.1:c.1794T>C	XP_011542327.1:p.Ser598=
XM_011544026.1:c.1746T>C	XP_011542328.1:p.Ser582=
XM_011544027.1:c.1569T>C	XP_011542329.1:p.Ser523=
XM_011544028.1:c.1521T>C	XP_011542330.1:p.Ser507=
XM_011544030.1:c.912T>C	XP_011542332.1:p.Ser304=
XR_949128.1:n.2007T>C
NM_001350246.1:c.954T>C	NP_001337175.1:p.Ser318=
NM_001350247.1:c.954T>C	NP_001337176.1:p.Ser318=
NM_001350248.1:c.1953T>C	NP_001337177.1:p.Ser651=
NM_001350249.1:c.1563T>C	NP_001337178.1:p.Ser521=
NM_001350251.1:c.954T>C	NP_001337180.1:p.Ser318=
NM_006642.4:c.1857T>C	NP_006633.1:p.Ser619=
XM_005273013.5:c.1728T>C	XP_005273070.1:p.Ser576=
XM_005273018.2:c.1434T>C	XP_005273075.1:p.Ser478=
XM_005273022.4:c.936T>C	XP_005273079.1:p.Ser312=
XM_011544026.3:c.1746T>C	XP_011542328.1:p.Ser582=
XM_011544028.3:c.1521T>C	XP_011542330.1:p.Ser507=
XM_011544030.3:c.912T>C	XP_011542332.1:p.Ser304=
XM_017000104.2:c.1728T>C	XP_016855593.1:p.Ser576=
XM_017000105.2:c.1620T>C	XP_016855594.1:p.Ser540=
XM_024452537.1:c.1659T>C	XP_024308305.1:p.Ser553=
XM_024452539.1:c.1659T>C	XP_024308307.1:p.Ser553=
XM_024452540.1:c.1659T>C	XP_024308308.1:p.Ser553=
XM_024452547.1:c.1563T>C	XP_024308315.1:p.Ser521=
XM_024452548.1:c.1659T>C	XP_024308316.1:p.Ser553=
XM_024452549.1:c.1326T>C	XP_024308317.1:p.Ser442=
XR_002958955.1:n.1899T>C
XR_002958956.1:n.1899T>C
XR_002958965.1:n.1790T>C
NM_006642.5:c.1857T>C MANE Select	NP_006633.1:p.Ser619=
NM_001350246.2:c.954T>C	NP_001337175.1:p.Ser318=
NM_001350247.2:c.954T>C	NP_001337176.1:p.Ser318=
NM_001350248.2:c.1953T>C	NP_001337177.1:p.Ser651=
NM_001350249.2:c.1563T>C	NP_001337178.1:p.Ser521=
NM_001350251.2:c.954T>C	NP_001337180.1:p.Ser318=