Canonical Allele Identifier: CA372769652

Gene: DOCK8

Linked Data

• gnomAD v4: 9-452023-G-T
• MyVariant Identifiers: chr9:g.452023G>T (hg19) ; chr9:g.452023G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.452023G>T , CM000671.2:g.452023G>T	GRCh38
NC_000009.11:g.452023G>T , CM000671.1:g.452023G>T	GRCh37
NC_000009.10:g.442023G>T	NCBI36
NG_017007.1:g.242159G>T , LRG_196:g.242159G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382329.2:c.5674G>T	ENSP00000371766.2:p.Val1892Leu
ENST00000683406.1:n.2449G>T
ENST00000684637.1:n.1655G>T
ENST00000685949.1:n.4762G>T
ENST00000432829.7:c.5974G>T MANE Select	ENSP00000394888.3:p.Val1992Leu
ENST00000382329.1:c.4375G>T	ENSP00000371766.1:p.Val1459Leu
ENST00000432829.6:c.5974G>T	ENSP00000394888.3:p.Val1992Leu
ENST00000453981.5:c.5770G>T	ENSP00000408464.2:p.Val1924Leu
ENST00000469391.5:c.5674G>T	ENSP00000419438.1:p.Val1892Leu
ENST00000495184.5:n.7929G>T
NM_001190458.1:c.5674G>T	NP_001177387.1:p.Val1892Leu
NM_001193536.1:c.5770G>T	NP_001180465.1:p.Val1924Leu
NM_203447.3:c.5974G>T , LRG_196t1:c.5974G>T	NP_982272.2:p.Val1992Leu
XM_011518045.1:c.5674G>T	XP_011516347.1:p.Val1892Leu
XM_011518046.1:c.5836G>T	XP_011516348.1:p.Val1946Leu
XM_011518047.1:c.5770G>T	XP_011516349.1:p.Val1924Leu
XM_011518048.1:c.5770G>T	XP_011516350.1:p.Val1924Leu
XM_011518049.1:c.4210G>T	XP_011516351.1:p.Val1404Leu
XM_011518045.3:c.5674G>T	XP_011516347.1:p.Val1892Leu
XM_011518046.2:c.5836G>T	XP_011516348.1:p.Val1946Leu
XM_011518047.3:c.5770G>T	XP_011516349.1:p.Val1924Leu
XM_011518048.2:c.5770G>T	XP_011516350.1:p.Val1924Leu
XM_011518049.2:c.4210G>T	XP_011516351.1:p.Val1404Leu
XM_017015173.1:c.5770G>T	XP_016870662.1:p.Val1924Leu
XM_017015174.1:c.5836G>T	XP_016870663.1:p.Val1946Leu
NM_001190458.2:c.5674G>T	NP_001177387.1:p.Val1892Leu
NM_001193536.2:c.5770G>T	NP_001180465.1:p.Val1924Leu
NM_203447.4:c.5974G>T MANE Select	NP_982272.2:p.Val1992Leu