Canonical Allele Identifier: CA6255652

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103468633A>G , CM000673.2:g.103468633A>G	GRCh38
NC_000011.9:g.103339361A>G , CM000673.1:g.103339361A>G	GRCh37
NC_000011.8:g.102844571A>G	NCBI36
NG_016423.1:g.364202A>G
NG_016423.2:g.364203A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.12693A>G MANE Select	NP_001368.2:p.Gln4231=
ENST00000375735.7:c.12693A>G MANE Select	ENSP00000364887.2:p.Gln4231=
NM_001080463.2:c.12714A>G MANE Plus Clinical	NP_001073932.1:p.Gln4238=
ENST00000650373.2:c.12714A>G MANE Plus Clinical	ENSP00000497174.1:p.Gln4238=
NM_001080463.1:c.12714A>G	NP_001073932.1:p.Gln4238=
NM_001377.2:c.12693A>G	NP_001368.2:p.Gln4231=
ENST00000334267.11:c.2532A>G	ENSP00000334021.7:p.Gln844=
ENST00000375735.6:c.12693A>G	ENSP00000364887.2:p.Gln4231=
ENST00000398093.7:c.12714A>G	ENSP00000381167.3:p.Gln4238=
ENST00000527252.1:n.245A>G
ENST00000528670.5:c.1876A>G	ENSP00000433451.1:n.1876A>G
ENST00000530547.1:n.424A>G
ENST00000533197.1:c.444A>G	ENSP00000436736.1:p.Gln148=
ENST00000650373.1:c.12714A>G	ENSP00000497174.1:p.Gln4238=
XM_006718903.2:c.12672A>G	XP_006718966.1:p.Gln4224=
XM_017018291.1:c.12483A>G	XP_016873780.1:p.Gln4161=
XM_017018292.1:c.12075A>G	XP_016873781.1:p.Gln4025=