Canonical Allele Identifier: CA6255228

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103304648T>G , CM000673.2:g.103304648T>G	GRCh38
NC_000011.9:g.103175377T>G , CM000673.1:g.103175377T>G	GRCh37
NC_000011.8:g.102680587T>G	NCBI36
NG_016423.1:g.200218T>G
NG_016423.2:g.200218T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.11310T>G MANE Select	NP_001368.2:p.Cys3770Trp
ENST00000375735.7:c.11310T>G MANE Select	ENSP00000364887.2:p.Cys3770Trp
NM_001080463.2:c.11331T>G MANE Plus Clinical	NP_001073932.1:p.Cys3777Trp
ENST00000650373.2:c.11331T>G MANE Plus Clinical	ENSP00000497174.1:p.Cys3777Trp
NM_001080463.1:c.11331T>G	NP_001073932.1:p.Cys3777Trp
NM_001377.2:c.11310T>G	NP_001368.2:p.Cys3770Trp
ENST00000334267.11:c.2206-131295T>G	ENSP00000334021.7:n.2206-131295T>G
ENST00000375735.6:c.11310T>G	ENSP00000364887.2:p.Cys3770Trp
ENST00000398093.7:c.11331T>G	ENSP00000381167.3:p.Cys3777Trp
ENST00000528670.5:c.489T>G	ENSP00000433451.1:p.Cys163Trp
ENST00000650373.1:c.11331T>G	ENSP00000497174.1:p.Cys3777Trp
XM_006718903.2:c.11289T>G	XP_006718966.1:p.Cys3763Trp
XM_017018291.1:c.11310T>G	XP_016873780.1:p.Cys3770Trp
XM_017018292.1:c.10692T>G	XP_016873781.1:p.Cys3564Trp