Canonical Allele Identifier: CA4957857
Community Standard Title: NM_203447.4(DOCK8):c.1680-2A>G
Gene: DOCK8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.368016A>G , CM000671.2:g.368016A>G GRCh38
NC_000009.11:g.368016A>G , CM000671.1:g.368016A>G GRCh37
NC_000009.10:g.358016A>G NCBI36
NG_017007.1:g.158152A>G , LRG_196:g.158152A>G

Transcript Alleles

HGVS Amino-acid Change
NM_203447.4:c.1680-2A>G MANE Select NP_982272.2:n.1680-2A>G
ENST00000432829.7:c.1680-2A>G MANE Select ENSP00000394888.3:n.1680-2A>G
NM_001190458.1:c.1476-2A>G NP_001177387.1:n.1476-2A>G
NM_001190458.2:c.1476-2A>G NP_001177387.1:n.1476-2A>G
NM_001193536.1:c.1476-2A>G NP_001180465.1:n.1476-2A>G
NM_001193536.2:c.1476-2A>G NP_001180465.1:n.1476-2A>G
NM_203447.3:c.1680-2A>G , LRG_196t1:c.1680-2A>G NP_982272.2:n.1680-2A>G
ENST00000382329.1:c.-85-2A>G ENSP00000371766.1:n.-85-2A>G
ENST00000382329.2:c.1476-2A>G ENSP00000371766.2:n.1476-2A>G
ENST00000382331.5:c.-276-2A>G ENSP00000371768.1:n.-276-2A>G
ENST00000382331.6:n.316-2A>G
ENST00000432829.6:c.1680-2A>G ENSP00000394888.3:n.1680-2A>G
ENST00000453981.5:c.1476-2A>G ENSP00000408464.2:n.1476-2A>G
ENST00000469391.5:c.1476-2A>G ENSP00000419438.1:n.1476-2A>G
ENST00000483757.5:c.*929-2A>G ENSP00000417691.1:n.*929-2A>G
ENST00000483757.6:c.*141-2A>G ENSP00000417691.2:n.*141-2A>G
ENST00000495184.5:n.1541-2A>G
ENST00000685949.1:n.303-2A>G
XM_011518045.1:c.1476-2A>G XP_011516347.1:n.1476-2A>G
XM_011518045.3:c.1476-2A>G XP_011516347.1:n.1476-2A>G
XM_011518046.1:c.1542-2A>G XP_011516348.1:n.1542-2A>G
XM_011518046.2:c.1542-2A>G XP_011516348.1:n.1542-2A>G
XM_011518047.1:c.1476-2A>G XP_011516349.1:n.1476-2A>G
XM_011518047.3:c.1476-2A>G XP_011516349.1:n.1476-2A>G
XM_011518048.1:c.1476-2A>G XP_011516350.1:n.1476-2A>G
XM_011518048.2:c.1476-2A>G XP_011516350.1:n.1476-2A>G
XM_011518049.1:c.-85-2A>G XP_011516351.1:n.-85-2A>G
XM_011518049.2:c.-85-2A>G XP_011516351.1:n.-85-2A>G
XM_017015173.1:c.1476-2A>G XP_016870662.1:n.1476-2A>G
XM_017015174.1:c.1542-2A>G XP_016870663.1:n.1542-2A>G