Canonical Allele Identifier: CA6255715

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103479245A>G , CM000673.2:g.103479245A>G	GRCh38
NC_000011.9:g.103349973A>G , CM000673.1:g.103349973A>G	GRCh37
NC_000011.8:g.102855183A>G	NCBI36
NG_016423.1:g.374814A>G
NG_016423.2:g.374815A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.12916A>G MANE Select	NP_001368.2:p.Asn4306Asp
ENST00000375735.7:c.12916A>G MANE Select	ENSP00000364887.2:p.Asn4306Asp
NM_001080463.2:c.12937A>G MANE Plus Clinical	NP_001073932.1:p.Asn4313Asp
ENST00000650373.2:c.12937A>G MANE Plus Clinical	ENSP00000497174.1:p.Asn4313Asp
NM_001080463.1:c.12937A>G	NP_001073932.1:p.Asn4313Asp
NM_001377.2:c.12916A>G	NP_001368.2:p.Asn4306Asp
ENST00000334267.11:c.2755A>G	ENSP00000334021.7:p.Asn919Asp
ENST00000375735.6:c.12916A>G	ENSP00000364887.2:p.Asn4306Asp
ENST00000398093.7:c.12937A>G	ENSP00000381167.3:p.Asn4313Asp
ENST00000527252.1:n.468A>G
ENST00000528670.5:c.2099A>G	ENSP00000433451.1:n.2099A>G
ENST00000530547.1:n.647A>G
ENST00000533197.1:c.667A>G	ENSP00000436736.1:p.Asn223Asp
ENST00000650373.1:c.12937A>G	ENSP00000497174.1:p.Asn4313Asp
XM_006718903.2:c.12895A>G	XP_006718966.1:p.Asn4299Asp
XM_017018291.1:c.12706A>G	XP_016873780.1:p.Asn4236Asp
XM_017018292.1:c.12298A>G	XP_016873781.1:p.Asn4100Asp