Canonical Allele Identifier: CA40445209
Community Standard Title: NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter)
Gene: SDCCAG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.243330618C>T , CM000663.2:g.243330618C>T GRCh38
NC_000001.10:g.243493920C>T , CM000663.1:g.243493920C>T GRCh37
NC_000001.9:g.241560543C>T NCBI36
NG_027811.1:g.79614C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006642.5:c.1147C>T MANE Select NP_006633.1:p.Gln383Ter
ENST00000366541.8:c.1147C>T MANE Select ENSP00000355499.3:p.Gln383Ter
NM_001350246.1:c.244C>T NP_001337175.1:p.Gln82Ter
NM_001350246.2:c.244C>T NP_001337175.1:p.Gln82Ter
NM_001350247.1:c.244C>T NP_001337176.1:p.Gln82Ter
NM_001350247.2:c.244C>T NP_001337176.1:p.Gln82Ter
NM_001350248.1:c.1243C>T NP_001337177.1:p.Gln415Ter
NM_001350248.2:c.1243C>T NP_001337177.1:p.Gln415Ter
NM_001350249.1:c.853C>T NP_001337178.1:p.Gln285Ter
NM_001350249.2:c.853C>T NP_001337178.1:p.Gln285Ter
NM_001350251.1:c.244C>T NP_001337180.1:p.Gln82Ter
NM_001350251.2:c.244C>T NP_001337180.1:p.Gln82Ter
NM_006642.3:c.1147C>T NP_006633.1:p.Gln383Ter
NM_006642.4:c.1147C>T NP_006633.1:p.Gln383Ter
ENST00000366541.7:c.1147C>T ENSP00000355499.3:p.Gln383Ter
ENST00000435549.1:c.487C>T ENSP00000410200.1:p.Gln163Ter
XM_005273013.3:c.1018C>T XP_005273070.1:p.Gln340Ter
XM_005273013.5:c.1018C>T XP_005273070.1:p.Gln340Ter
XM_005273018.1:c.724C>T XP_005273075.1:p.Gln242Ter
XM_005273018.2:c.724C>T XP_005273075.1:p.Gln242Ter
XM_005273021.3:c.244C>T XP_005273078.1:p.Gln82Ter
XM_005273022.2:c.226C>T XP_005273079.1:p.Gln76Ter
XM_005273022.4:c.226C>T XP_005273079.1:p.Gln76Ter
XM_006711727.2:c.1177C>T XP_006711790.1:p.Gln393Ter
XM_006711728.2:c.1048C>T XP_006711791.1:p.Gln350Ter
XM_006711729.2:c.988C>T XP_006711792.1:p.Gln330Ter
XM_011544021.1:c.1273C>T XP_011542323.1:p.Gln425Ter
XM_011544022.1:c.1243C>T XP_011542324.1:p.Gln415Ter
XM_011544023.1:c.1273C>T XP_011542325.1:p.Gln425Ter
XM_011544024.1:c.1273C>T XP_011542326.1:p.Gln425Ter
XM_011544025.1:c.1084C>T XP_011542327.1:p.Gln362Ter
XM_011544026.1:c.1273C>T XP_011542328.1:p.Gln425Ter
XM_011544026.3:c.1273C>T XP_011542328.1:p.Gln425Ter
XM_011544027.1:c.859C>T XP_011542329.1:p.Gln287Ter
XM_011544028.1:c.1048C>T XP_011542330.1:p.Gln350Ter
XM_011544028.3:c.1048C>T XP_011542330.1:p.Gln350Ter
XM_011544030.1:c.202C>T XP_011542332.1:p.Gln68Ter
XM_011544030.3:c.202C>T XP_011542332.1:p.Gln68Ter
XM_017000104.2:c.1018C>T XP_016855593.1:p.Gln340Ter
XM_017000105.2:c.1147C>T XP_016855594.1:p.Gln383Ter
XM_024452537.1:c.949C>T XP_024308305.1:p.Gln317Ter
XM_024452539.1:c.949C>T XP_024308307.1:p.Gln317Ter
XM_024452540.1:c.949C>T XP_024308308.1:p.Gln317Ter
XM_024452547.1:c.853C>T XP_024308315.1:p.Gln285Ter
XM_024452548.1:c.949C>T XP_024308316.1:p.Gln317Ter
XM_024452549.1:c.853C>T XP_024308317.1:p.Gln285Ter
XR_002958955.1:n.1189C>T
XR_002958956.1:n.1189C>T
XR_002958965.1:n.1189C>T
XR_949128.1:n.1297C>T