Canonical Allele Identifier: CA372769853

Gene: DOCK8

Linked Data

• MyVariant Identifiers: chr9:g.452113A>T (hg19) ; chr9:g.452113A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.452113A>T , CM000671.2:g.452113A>T	GRCh38
NC_000009.11:g.452113A>T , CM000671.1:g.452113A>T	GRCh37
NC_000009.10:g.442113A>T	NCBI36
NG_017007.1:g.242249A>T , LRG_196:g.242249A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5764A>T	ENSP00000371766.2:p.Met1922Leu
ENST00000683406.1:n.2539A>T
ENST00000684637.1:n.1745A>T
ENST00000685949.1:n.4852A>T
ENST00000432829.7:c.6064A>T MANE Select	ENSP00000394888.3:p.Met2022Leu
ENST00000382329.1:c.4465A>T	ENSP00000371766.1:p.Met1489Leu
ENST00000432829.6:c.6064A>T	ENSP00000394888.3:p.Met2022Leu
ENST00000453981.5:c.5860A>T	ENSP00000408464.2:p.Met1954Leu
ENST00000469391.5:c.5764A>T	ENSP00000419438.1:p.Met1922Leu
ENST00000495184.5:n.8019A>T
NM_001190458.1:c.5764A>T	NP_001177387.1:p.Met1922Leu
NM_001193536.1:c.5860A>T	NP_001180465.1:p.Met1954Leu
NM_203447.3:c.6064A>T , LRG_196t1:c.6064A>T	NP_982272.2:p.Met2022Leu
XM_011518045.1:c.5764A>T	XP_011516347.1:p.Met1922Leu
XM_011518046.1:c.5926A>T	XP_011516348.1:p.Met1976Leu
XM_011518047.1:c.5860A>T	XP_011516349.1:p.Met1954Leu
XM_011518048.1:c.5860A>T	XP_011516350.1:p.Met1954Leu
XM_011518049.1:c.4300A>T	XP_011516351.1:p.Met1434Leu
XM_011518045.3:c.5764A>T	XP_011516347.1:p.Met1922Leu
XM_011518046.2:c.5926A>T	XP_011516348.1:p.Met1976Leu
XM_011518047.3:c.5860A>T	XP_011516349.1:p.Met1954Leu
XM_011518048.2:c.5860A>T	XP_011516350.1:p.Met1954Leu
XM_011518049.2:c.4300A>T	XP_011516351.1:p.Met1434Leu
XM_017015173.1:c.5860A>T	XP_016870662.1:p.Met1954Leu
XM_017015174.1:c.5926A>T	XP_016870663.1:p.Met1976Leu
NM_001190458.2:c.5764A>T	NP_001177387.1:p.Met1922Leu
NM_001193536.2:c.5860A>T	NP_001180465.1:p.Met1954Leu
NM_203447.4:c.6064A>T MANE Select	NP_982272.2:p.Met2022Leu