Canonical Allele Identifier: CA345667717

Gene: SDCCAG8

Linked Data

• gnomAD v4: 1-243426463-T-A
• MyVariant Identifiers: chr1:g.243589765T>A (hg19) ; chr1:g.243426463T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.243426463T>A , CM000663.2:g.243426463T>A	GRCh38
NC_000001.10:g.243589765T>A , CM000663.1:g.243589765T>A	GRCh37
NC_000001.9:g.241656388T>A	NCBI36
NG_027811.1:g.175459T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366541.8:c.1890T>A MANE Select	ENSP00000355499.3:p.Tyr630Ter
ENST00000366541.7:c.1890T>A	ENSP00000355499.3:p.Tyr630Ter
ENST00000435549.1:c.993T>A	ENSP00000410200.1:p.Tyr331Ter
ENST00000463042.1:n.97T>A
NM_006642.3:c.1890T>A	NP_006633.1:p.Tyr630Ter
XM_005273013.3:c.1761T>A	XP_005273070.1:p.Tyr587Ter
XM_005273018.1:c.1467T>A	XP_005273075.1:p.Tyr489Ter
XM_005273021.3:c.987T>A	XP_005273078.1:p.Tyr329Ter
XM_005273022.2:c.969T>A	XP_005273079.1:p.Tyr323Ter
XM_006711727.2:c.1920T>A	XP_006711790.1:p.Tyr640Ter
XM_006711728.2:c.1791T>A	XP_006711791.1:p.Tyr597Ter
XM_006711729.2:c.1731T>A	XP_006711792.1:p.Tyr577Ter
XM_011544021.1:c.2016T>A	XP_011542323.1:p.Tyr672Ter
XM_011544022.1:c.1986T>A	XP_011542324.1:p.Tyr662Ter
XM_011544023.1:c.2016T>A	XP_011542325.1:p.Tyr672Ter
XM_011544024.1:c.2016T>A	XP_011542326.1:p.Tyr672Ter
XM_011544025.1:c.1827T>A	XP_011542327.1:p.Tyr609Ter
XM_011544026.1:c.1779T>A	XP_011542328.1:p.Tyr593Ter
XM_011544027.1:c.1602T>A	XP_011542329.1:p.Tyr534Ter
XM_011544028.1:c.1554T>A	XP_011542330.1:p.Tyr518Ter
XM_011544030.1:c.945T>A	XP_011542332.1:p.Tyr315Ter
XR_949128.1:n.2040T>A
NM_001350246.1:c.987T>A	NP_001337175.1:p.Tyr329Ter
NM_001350247.1:c.987T>A	NP_001337176.1:p.Tyr329Ter
NM_001350248.1:c.1986T>A	NP_001337177.1:p.Tyr662Ter
NM_001350249.1:c.1596T>A	NP_001337178.1:p.Tyr532Ter
NM_001350251.1:c.987T>A	NP_001337180.1:p.Tyr329Ter
NM_006642.4:c.1890T>A	NP_006633.1:p.Tyr630Ter
XM_005273013.5:c.1761T>A	XP_005273070.1:p.Tyr587Ter
XM_005273018.2:c.1467T>A	XP_005273075.1:p.Tyr489Ter
XM_005273022.4:c.969T>A	XP_005273079.1:p.Tyr323Ter
XM_011544026.3:c.1779T>A	XP_011542328.1:p.Tyr593Ter
XM_011544028.3:c.1554T>A	XP_011542330.1:p.Tyr518Ter
XM_011544030.3:c.945T>A	XP_011542332.1:p.Tyr315Ter
XM_017000104.2:c.1761T>A	XP_016855593.1:p.Tyr587Ter
XM_017000105.2:c.1653T>A	XP_016855594.1:p.Tyr551Ter
XM_024452537.1:c.1692T>A	XP_024308305.1:p.Tyr564Ter
XM_024452539.1:c.1692T>A	XP_024308307.1:p.Tyr564Ter
XM_024452540.1:c.1692T>A	XP_024308308.1:p.Tyr564Ter
XM_024452547.1:c.1596T>A	XP_024308315.1:p.Tyr532Ter
XM_024452548.1:c.1692T>A	XP_024308316.1:p.Tyr564Ter
XM_024452549.1:c.1359T>A	XP_024308317.1:p.Tyr453Ter
XR_002958955.1:n.1932T>A
XR_002958956.1:n.1932T>A
XR_002958965.1:n.1823T>A
NM_006642.5:c.1890T>A MANE Select	NP_006633.1:p.Tyr630Ter
NM_001350246.2:c.987T>A	NP_001337175.1:p.Tyr329Ter
NM_001350247.2:c.987T>A	NP_001337176.1:p.Tyr329Ter
NM_001350248.2:c.1986T>A	NP_001337177.1:p.Tyr662Ter
NM_001350249.2:c.1596T>A	NP_001337178.1:p.Tyr532Ter
NM_001350251.2:c.987T>A	NP_001337180.1:p.Tyr329Ter