Canonical Allele Identifier: CA1483777

Gene: SDCCAG8

Linked Data

• dbSNP Id: rs534333658
• ExAC: 1:243589796 A / C
• gnomAD v2: 1-243589796-A-C
• gnomAD v3: 1-243426494-A-C
• gnomAD v4: 1-243426494-A-C
• MyVariant Identifiers: chr1:g.243589796A>C (hg19) ; chr1:g.243426494A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.243426494A>C , CM000663.2:g.243426494A>C	GRCh38
NC_000001.10:g.243589796A>C , CM000663.1:g.243589796A>C	GRCh37
NC_000001.9:g.241656419A>C	NCBI36
NG_027811.1:g.175490A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366541.8:c.1921A>C MANE Select	ENSP00000355499.3:p.Arg641=
ENST00000366541.7:c.1921A>C	ENSP00000355499.3:p.Arg641=
ENST00000435549.1:c.1024A>C	ENSP00000410200.1:p.Arg342=
ENST00000463042.1:n.128A>C
NM_006642.3:c.1921A>C	NP_006633.1:p.Arg641=
XM_005273013.3:c.1792A>C	XP_005273070.1:p.Arg598=
XM_005273018.1:c.1498A>C	XP_005273075.1:p.Arg500=
XM_005273021.3:c.1018A>C	XP_005273078.1:p.Arg340=
XM_005273022.2:c.1000A>C	XP_005273079.1:p.Arg334=
XM_006711727.2:c.1951A>C	XP_006711790.1:p.Arg651=
XM_006711728.2:c.1822A>C	XP_006711791.1:p.Arg608=
XM_006711729.2:c.1762A>C	XP_006711792.1:p.Arg588=
XM_011544021.1:c.2047A>C	XP_011542323.1:p.Arg683=
XM_011544022.1:c.2017A>C	XP_011542324.1:p.Arg673=
XM_011544023.1:c.2047A>C	XP_011542325.1:p.Arg683=
XM_011544024.1:c.2047A>C	XP_011542326.1:p.Arg683=
XM_011544025.1:c.1858A>C	XP_011542327.1:p.Arg620=
XM_011544026.1:c.1810A>C	XP_011542328.1:p.Arg604=
XM_011544027.1:c.1633A>C	XP_011542329.1:p.Arg545=
XM_011544028.1:c.1585A>C	XP_011542330.1:p.Arg529=
XM_011544030.1:c.976A>C	XP_011542332.1:p.Arg326=
XR_949128.1:n.2071A>C
NM_001350246.1:c.1018A>C	NP_001337175.1:p.Arg340=
NM_001350247.1:c.1018A>C	NP_001337176.1:p.Arg340=
NM_001350248.1:c.2017A>C	NP_001337177.1:p.Arg673=
NM_001350249.1:c.1627A>C	NP_001337178.1:p.Arg543=
NM_001350251.1:c.1018A>C	NP_001337180.1:p.Arg340=
NM_006642.4:c.1921A>C	NP_006633.1:p.Arg641=
XM_005273013.5:c.1792A>C	XP_005273070.1:p.Arg598=
XM_005273018.2:c.1498A>C	XP_005273075.1:p.Arg500=
XM_005273022.4:c.1000A>C	XP_005273079.1:p.Arg334=
XM_011544026.3:c.1810A>C	XP_011542328.1:p.Arg604=
XM_011544028.3:c.1585A>C	XP_011542330.1:p.Arg529=
XM_011544030.3:c.976A>C	XP_011542332.1:p.Arg326=
XM_017000104.2:c.1792A>C	XP_016855593.1:p.Arg598=
XM_017000105.2:c.1684A>C	XP_016855594.1:p.Arg562=
XM_024452537.1:c.1723A>C	XP_024308305.1:p.Arg575=
XM_024452539.1:c.1723A>C	XP_024308307.1:p.Arg575=
XM_024452540.1:c.1723A>C	XP_024308308.1:p.Arg575=
XM_024452547.1:c.1627A>C	XP_024308315.1:p.Arg543=
XM_024452548.1:c.1723A>C	XP_024308316.1:p.Arg575=
XM_024452549.1:c.1390A>C	XP_024308317.1:p.Arg464=
XR_002958955.1:n.1963A>C
XR_002958956.1:n.1963A>C
XR_002958965.1:n.1854A>C
NM_006642.5:c.1921A>C MANE Select	NP_006633.1:p.Arg641=
NM_001350246.2:c.1018A>C	NP_001337175.1:p.Arg340=
NM_001350247.2:c.1018A>C	NP_001337176.1:p.Arg340=
NM_001350248.2:c.2017A>C	NP_001337177.1:p.Arg673=
NM_001350249.2:c.1627A>C	NP_001337178.1:p.Arg543=
NM_001350251.2:c.1018A>C	NP_001337180.1:p.Arg340=