Canonical Allele Identifier: CA345474949
Community Standard Title: NM_006642.5(SDCCAG8):c.1356+1G>C
Gene: SDCCAG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.243341174G>C , CM000663.2:g.243341174G>C GRCh38
NC_000001.10:g.243504476G>C , CM000663.1:g.243504476G>C GRCh37
NC_000001.9:g.241571099G>C NCBI36
NG_027811.1:g.90170G>C

Transcript Alleles

HGVS Amino-acid Change
NM_006642.5:c.1356+1G>C MANE Select NP_006633.1:n.1356+1G>C
ENST00000366541.8:c.1356+1G>C MANE Select ENSP00000355499.3:n.1356+1G>C
NM_001350246.1:c.453+1G>C NP_001337175.1:n.453+1G>C
NM_001350246.2:c.453+1G>C NP_001337175.1:n.453+1G>C
NM_001350247.1:c.453+1G>C NP_001337176.1:n.453+1G>C
NM_001350247.2:c.453+1G>C NP_001337176.1:n.453+1G>C
NM_001350248.1:c.1452+1G>C NP_001337177.1:n.1452+1G>C
NM_001350248.2:c.1452+1G>C NP_001337177.1:n.1452+1G>C
NM_001350249.1:c.1062+1G>C NP_001337178.1:n.1062+1G>C
NM_001350249.2:c.1062+1G>C NP_001337178.1:n.1062+1G>C
NM_001350251.1:c.453+1G>C NP_001337180.1:n.453+1G>C
NM_001350251.2:c.453+1G>C NP_001337180.1:n.453+1G>C
NM_006642.3:c.1356+1G>C NP_006633.1:n.1356+1G>C
NM_006642.4:c.1356+1G>C NP_006633.1:n.1356+1G>C
ENST00000366541.7:c.1356+1G>C ENSP00000355499.3:n.1356+1G>C
ENST00000435549.1:c.696+1G>C ENSP00000410200.1:n.696+1G>C
ENST00000493334.1:n.323+1G>C
XM_005273013.3:c.1227+1G>C XP_005273070.1:n.1227+1G>C
XM_005273013.5:c.1227+1G>C XP_005273070.1:n.1227+1G>C
XM_005273018.1:c.933+1G>C XP_005273075.1:n.933+1G>C
XM_005273018.2:c.933+1G>C XP_005273075.1:n.933+1G>C
XM_005273021.3:c.453+1G>C XP_005273078.1:n.453+1G>C
XM_005273022.2:c.435+1G>C XP_005273079.1:n.435+1G>C
XM_005273022.4:c.435+1G>C XP_005273079.1:n.435+1G>C
XM_006711727.2:c.1386+1G>C XP_006711790.1:n.1386+1G>C
XM_006711728.2:c.1257+1G>C XP_006711791.1:n.1257+1G>C
XM_006711729.2:c.1197+1G>C XP_006711792.1:n.1197+1G>C
XM_011544021.1:c.1482+1G>C XP_011542323.1:n.1482+1G>C
XM_011544022.1:c.1452+1G>C XP_011542324.1:n.1452+1G>C
XM_011544023.1:c.1482+1G>C XP_011542325.1:n.1482+1G>C
XM_011544024.1:c.1482+1G>C XP_011542326.1:n.1482+1G>C
XM_011544025.1:c.1293+1G>C XP_011542327.1:n.1293+1G>C
XM_011544026.1:c.1482+1G>C XP_011542328.1:n.1482+1G>C
XM_011544026.3:c.1482+1G>C XP_011542328.1:n.1482+1G>C
XM_011544027.1:c.1068+1G>C XP_011542329.1:n.1068+1G>C
XM_011544028.1:c.1257+1G>C XP_011542330.1:n.1257+1G>C
XM_011544028.3:c.1257+1G>C XP_011542330.1:n.1257+1G>C
XM_011544030.1:c.411+1G>C XP_011542332.1:n.411+1G>C
XM_011544030.3:c.411+1G>C XP_011542332.1:n.411+1G>C
XM_017000104.2:c.1227+1G>C XP_016855593.1:n.1227+1G>C
XM_017000105.2:c.1356+1G>C XP_016855594.1:n.1356+1G>C
XM_024452537.1:c.1158+1G>C XP_024308305.1:n.1158+1G>C
XM_024452539.1:c.1158+1G>C XP_024308307.1:n.1158+1G>C
XM_024452540.1:c.1158+1G>C XP_024308308.1:n.1158+1G>C
XM_024452547.1:c.1062+1G>C XP_024308315.1:n.1062+1G>C
XM_024452548.1:c.1158+1G>C XP_024308316.1:n.1158+1G>C
XM_024452549.1:c.1062+1G>C XP_024308317.1:n.1062+1G>C
XR_002958955.1:n.1398+1G>C
XR_002958956.1:n.1398+1G>C
XR_002958965.1:n.1398+1G>C
XR_949128.1:n.1506+1G>C