Canonical Allele Identifier: CA4957300
Community Standard Title: NM_203447.4(DOCK8):c.529-10T>C
Gene: DOCK8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.311944T>C , CM000671.2:g.311944T>C GRCh38
NC_000009.11:g.311944T>C , CM000671.1:g.311944T>C GRCh37
NC_000009.10:g.301944T>C NCBI36
NG_017007.1:g.102080T>C , LRG_196:g.102080T>C

Transcript Alleles

HGVS Amino-acid Change
NM_203447.4:c.529-10T>C MANE Select NP_982272.2:n.529-10T>C
ENST00000432829.7:c.529-10T>C MANE Select ENSP00000394888.3:n.529-10T>C
NM_001190458.1:c.325-10T>C NP_001177387.1:n.325-10T>C
NM_001190458.2:c.325-10T>C NP_001177387.1:n.325-10T>C
NM_001193536.1:c.325-10T>C NP_001180465.1:n.325-10T>C
NM_001193536.2:c.325-10T>C NP_001180465.1:n.325-10T>C
NM_203447.3:c.529-10T>C , LRG_196t1:c.529-10T>C NP_982272.2:n.529-10T>C
ENST00000382329.2:c.325-10T>C ENSP00000371766.2:n.325-10T>C
ENST00000382341.5:n.424-10T>C
ENST00000432829.6:c.529-10T>C ENSP00000394888.3:n.529-10T>C
ENST00000453981.5:c.325-10T>C ENSP00000408464.2:n.325-10T>C
ENST00000454469.6:n.638-10T>C
ENST00000469391.5:c.325-10T>C ENSP00000419438.1:n.325-10T>C
ENST00000478380.5:n.408-10T>C
ENST00000483757.5:c.325-10T>C ENSP00000417691.1:n.325-10T>C
ENST00000483757.6:c.325-10T>C ENSP00000417691.2:n.325-10T>C
ENST00000495184.5:n.390-10T>C
ENST00000524396.5:c.*492-10T>C ENSP00000436628.1:n.*492-10T>C
ENST00000682249.1:c.325-10T>C ENSP00000507731.1:n.325-10T>C
ENST00000684384.1:n.638-10T>C
XM_011518045.1:c.325-10T>C XP_011516347.1:n.325-10T>C
XM_011518045.3:c.325-10T>C XP_011516347.1:n.325-10T>C
XM_011518046.1:c.391-10T>C XP_011516348.1:n.391-10T>C
XM_011518046.2:c.391-10T>C XP_011516348.1:n.391-10T>C
XM_011518047.1:c.325-10T>C XP_011516349.1:n.325-10T>C
XM_011518047.3:c.325-10T>C XP_011516349.1:n.325-10T>C
XM_011518048.1:c.325-10T>C XP_011516350.1:n.325-10T>C
XM_011518048.2:c.325-10T>C XP_011516350.1:n.325-10T>C
XM_017015173.1:c.325-10T>C XP_016870662.1:n.325-10T>C
XM_017015174.1:c.391-10T>C XP_016870663.1:n.391-10T>C