Canonical Allele Identifier: CA6255498

Gene: DYNC2H1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103399760G>A , CM000673.2:g.103399760G>A	GRCh38
NC_000011.9:g.103270488G>A , CM000673.1:g.103270488G>A	GRCh37
NC_000011.8:g.102775698G>A	NCBI36
NG_016423.1:g.295329G>A
NG_016423.2:g.295330G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.12275G>A MANE Plus Clinical	ENSP00000497174.1:p.Arg4092His
ENST00000375735.7:c.12254G>A MANE Select	ENSP00000364887.2:p.Arg4085His
ENST00000650373.1:c.12275G>A	ENSP00000497174.1:p.Arg4092His
ENST00000334267.11:c.2206-36183G>A	ENSP00000334021.7:n.2206-36183G>A
ENST00000375735.6:c.12254G>A	ENSP00000364887.2:p.Arg4085His
ENST00000398093.7:c.12275G>A	ENSP00000381167.3:p.Arg4092His
ENST00000528670.5:c.1437G>A	ENSP00000433451.1:n.1437G>A
ENST00000533197.1:c.118-36183G>A	ENSP00000436736.1:n.118-36183G>A
NM_001080463.1:c.12275G>A	NP_001073932.1:p.Arg4092His
NM_001377.2:c.12254G>A	NP_001368.2:p.Arg4085His
XM_006718903.2:c.12233G>A	XP_006718966.1:p.Arg4078His
XM_017018291.1:c.12157-36183G>A	XP_016873780.1:n.12157-36183G>A
XM_017018292.1:c.11636G>A	XP_016873781.1:p.Arg3879His
NM_001377.3:c.12254G>A MANE Select	NP_001368.2:p.Arg4085His
NM_001080463.2:c.12275G>A MANE Plus Clinical	NP_001073932.1:p.Arg4092His