Canonical Allele Identifier: CA345479223
Community Standard Title: NM_006642.5(SDCCAG8):c.862C>T (p.Gln288Ter)
Gene: SDCCAG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.243308110C>T , CM000663.2:g.243308110C>T GRCh38
NC_000001.10:g.243471412C>T , CM000663.1:g.243471412C>T GRCh37
NC_000001.9:g.241538035C>T NCBI36
NG_027811.1:g.57106C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006642.5:c.862C>T MANE Select NP_006633.1:p.Gln288Ter
ENST00000366541.8:c.862C>T MANE Select ENSP00000355499.3:p.Gln288Ter
NM_001350246.1:c.-42C>T NP_001337175.1:n.-42C>T
NM_001350246.2:c.-42C>T NP_001337175.1:n.-42C>T
NM_001350247.1:c.-42C>T NP_001337176.1:n.-42C>T
NM_001350247.2:c.-42C>T NP_001337176.1:n.-42C>T
NM_001350248.1:c.958C>T NP_001337177.1:p.Gln320Ter
NM_001350248.2:c.958C>T NP_001337177.1:p.Gln320Ter
NM_001350249.1:c.568C>T NP_001337178.1:p.Gln190Ter
NM_001350249.2:c.568C>T NP_001337178.1:p.Gln190Ter
NM_001350251.1:c.-42C>T NP_001337180.1:n.-42C>T
NM_001350251.2:c.-42C>T NP_001337180.1:n.-42C>T
NM_006642.3:c.862C>T NP_006633.1:p.Gln288Ter
NM_006642.4:c.862C>T NP_006633.1:p.Gln288Ter
ENST00000366541.7:c.862C>T ENSP00000355499.3:p.Gln288Ter
ENST00000435549.1:c.202C>T ENSP00000410200.1:p.Gln68Ter
ENST00000463012.1:n.222C>T
XM_005273013.3:c.733C>T XP_005273070.1:p.Gln245Ter
XM_005273013.5:c.733C>T XP_005273070.1:p.Gln245Ter
XM_005273018.1:c.439C>T XP_005273075.1:p.Gln147Ter
XM_005273018.2:c.439C>T XP_005273075.1:p.Gln147Ter
XM_005273021.3:c.-42C>T XP_005273078.1:n.-42C>T
XM_005273022.2:c.9-8645C>T XP_005273079.1:n.9-8645C>T
XM_005273022.4:c.9-8645C>T XP_005273079.1:n.9-8645C>T
XM_005273023.3:c.862C>T XP_005273080.1:p.Gln288Ter
XM_005273023.5:c.862C>T XP_005273080.1:p.Gln288Ter
XM_006711727.2:c.892C>T XP_006711790.1:p.Gln298Ter
XM_006711728.2:c.763C>T XP_006711791.1:p.Gln255Ter
XM_006711729.2:c.770+3333C>T XP_006711792.1:n.770+3333C>T
XM_011544021.1:c.988C>T XP_011542323.1:p.Gln330Ter
XM_011544022.1:c.958C>T XP_011542324.1:p.Gln320Ter
XM_011544023.1:c.988C>T XP_011542325.1:p.Gln330Ter
XM_011544024.1:c.988C>T XP_011542326.1:p.Gln330Ter
XM_011544025.1:c.866+3333C>T XP_011542327.1:n.866+3333C>T
XM_011544026.1:c.988C>T XP_011542328.1:p.Gln330Ter
XM_011544026.3:c.988C>T XP_011542328.1:p.Gln330Ter
XM_011544027.1:c.641+3333C>T XP_011542329.1:n.641+3333C>T
XM_011544028.1:c.763C>T XP_011542330.1:p.Gln255Ter
XM_011544028.3:c.763C>T XP_011542330.1:p.Gln255Ter
XM_011544029.1:c.988C>T XP_011542331.1:p.Gln330Ter
XM_017000104.2:c.733C>T XP_016855593.1:p.Gln245Ter
XM_017000105.2:c.862C>T XP_016855594.1:p.Gln288Ter
XM_024452537.1:c.664C>T XP_024308305.1:p.Gln222Ter
XM_024452539.1:c.664C>T XP_024308307.1:p.Gln222Ter
XM_024452540.1:c.664C>T XP_024308308.1:p.Gln222Ter
XM_024452547.1:c.568C>T XP_024308315.1:p.Gln190Ter
XM_024452548.1:c.664C>T XP_024308316.1:p.Gln222Ter
XM_024452549.1:c.568C>T XP_024308317.1:p.Gln190Ter
XR_002958955.1:n.904C>T
XR_002958956.1:n.904C>T
XR_002958965.1:n.904C>T
XR_949128.1:n.1012C>T