Canonical Allele Identifier: CA40430750
Gene: SDCCAG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.243341160T>G , CM000663.2:g.243341160T>G GRCh38
NC_000001.10:g.243504462T>G , CM000663.1:g.243504462T>G GRCh37
NC_000001.9:g.241571085T>G NCBI36
NG_027811.1:g.90156T>G

Transcript Alleles

HGVS Amino-acid Change
NM_006642.5:c.1343T>G MANE Select NP_006633.1:p.Met448Arg
ENST00000366541.8:c.1343T>G MANE Select ENSP00000355499.3:p.Met448Arg
NM_001350246.1:c.440T>G NP_001337175.1:p.Met147Arg
NM_001350246.2:c.440T>G NP_001337175.1:p.Met147Arg
NM_001350247.1:c.440T>G NP_001337176.1:p.Met147Arg
NM_001350247.2:c.440T>G NP_001337176.1:p.Met147Arg
NM_001350248.1:c.1439T>G NP_001337177.1:p.Met480Arg
NM_001350248.2:c.1439T>G NP_001337177.1:p.Met480Arg
NM_001350249.1:c.1049T>G NP_001337178.1:p.Met350Arg
NM_001350249.2:c.1049T>G NP_001337178.1:p.Met350Arg
NM_001350251.1:c.440T>G NP_001337180.1:p.Met147Arg
NM_001350251.2:c.440T>G NP_001337180.1:p.Met147Arg
NM_006642.3:c.1343T>G NP_006633.1:p.Met448Arg
NM_006642.4:c.1343T>G NP_006633.1:p.Met448Arg
ENST00000366541.7:c.1343T>G ENSP00000355499.3:p.Met448Arg
ENST00000435549.1:c.683T>G ENSP00000410200.1:p.Met228Arg
ENST00000493334.1:n.310T>G
XM_005273013.3:c.1214T>G XP_005273070.1:p.Met405Arg
XM_005273013.5:c.1214T>G XP_005273070.1:p.Met405Arg
XM_005273018.1:c.920T>G XP_005273075.1:p.Met307Arg
XM_005273018.2:c.920T>G XP_005273075.1:p.Met307Arg
XM_005273021.3:c.440T>G XP_005273078.1:p.Met147Arg
XM_005273022.2:c.422T>G XP_005273079.1:p.Met141Arg
XM_005273022.4:c.422T>G XP_005273079.1:p.Met141Arg
XM_006711727.2:c.1373T>G XP_006711790.1:p.Met458Arg
XM_006711728.2:c.1244T>G XP_006711791.1:p.Met415Arg
XM_006711729.2:c.1184T>G XP_006711792.1:p.Met395Arg
XM_011544021.1:c.1469T>G XP_011542323.1:p.Met490Arg
XM_011544022.1:c.1439T>G XP_011542324.1:p.Met480Arg
XM_011544023.1:c.1469T>G XP_011542325.1:p.Met490Arg
XM_011544024.1:c.1469T>G XP_011542326.1:p.Met490Arg
XM_011544025.1:c.1280T>G XP_011542327.1:p.Met427Arg
XM_011544026.1:c.1469T>G XP_011542328.1:p.Met490Arg
XM_011544026.3:c.1469T>G XP_011542328.1:p.Met490Arg
XM_011544027.1:c.1055T>G XP_011542329.1:p.Met352Arg
XM_011544028.1:c.1244T>G XP_011542330.1:p.Met415Arg
XM_011544028.3:c.1244T>G XP_011542330.1:p.Met415Arg
XM_011544030.1:c.398T>G XP_011542332.1:p.Met133Arg
XM_011544030.3:c.398T>G XP_011542332.1:p.Met133Arg
XM_017000104.2:c.1214T>G XP_016855593.1:p.Met405Arg
XM_017000105.2:c.1343T>G XP_016855594.1:p.Met448Arg
XM_024452537.1:c.1145T>G XP_024308305.1:p.Met382Arg
XM_024452539.1:c.1145T>G XP_024308307.1:p.Met382Arg
XM_024452540.1:c.1145T>G XP_024308308.1:p.Met382Arg
XM_024452547.1:c.1049T>G XP_024308315.1:p.Met350Arg
XM_024452548.1:c.1145T>G XP_024308316.1:p.Met382Arg
XM_024452549.1:c.1049T>G XP_024308317.1:p.Met350Arg
XR_002958955.1:n.1385T>G
XR_002958956.1:n.1385T>G
XR_002958965.1:n.1385T>G
XR_949128.1:n.1493T>G