Canonical Allele Identifier: CA6255615

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103456286G>A , CM000673.2:g.103456286G>A	GRCh38
NC_000011.9:g.103327014G>A , CM000673.1:g.103327014G>A	GRCh37
NC_000011.8:g.102832224G>A	NCBI36
NG_016423.1:g.351855G>A
NG_016423.2:g.351856G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.12578G>A MANE Select	NP_001368.2:p.Arg4193His
ENST00000375735.7:c.12578G>A MANE Select	ENSP00000364887.2:p.Arg4193His
NM_001080463.2:c.12599G>A MANE Plus Clinical	NP_001073932.1:p.Arg4200His
ENST00000650373.2:c.12599G>A MANE Plus Clinical	ENSP00000497174.1:p.Arg4200His
NM_001080463.1:c.12599G>A	NP_001073932.1:p.Arg4200His
NM_001377.2:c.12578G>A	NP_001368.2:p.Arg4193His
ENST00000334267.11:c.2417G>A	ENSP00000334021.7:p.Arg806His
ENST00000375735.6:c.12578G>A	ENSP00000364887.2:p.Arg4193His
ENST00000398093.7:c.12599G>A	ENSP00000381167.3:p.Arg4200His
ENST00000528670.5:c.1761G>A	ENSP00000433451.1:n.1761G>A
ENST00000530547.1:n.309G>A
ENST00000533197.1:c.329G>A	ENSP00000436736.1:p.Arg110His
ENST00000650373.1:c.12599G>A	ENSP00000497174.1:p.Arg4200His
XM_006718903.2:c.12557G>A	XP_006718966.1:p.Arg4186His
XM_017018291.1:c.12368G>A	XP_016873780.1:p.Arg4123His
XM_017018292.1:c.11960G>A	XP_016873781.1:p.Arg3987His