Canonical Allele Identifier: CA6255696

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103479162A>T , CM000673.2:g.103479162A>T	GRCh38
NC_000011.9:g.103349890A>T , CM000673.1:g.103349890A>T	GRCh37
NC_000011.8:g.102855100A>T	NCBI36
NG_016423.1:g.374731A>T
NG_016423.2:g.374732A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.12833A>T MANE Select	NP_001368.2:p.Asp4278Val
ENST00000375735.7:c.12833A>T MANE Select	ENSP00000364887.2:p.Asp4278Val
NM_001080463.2:c.12854A>T MANE Plus Clinical	NP_001073932.1:p.Asp4285Val
ENST00000650373.2:c.12854A>T MANE Plus Clinical	ENSP00000497174.1:p.Asp4285Val
NM_001080463.1:c.12854A>T	NP_001073932.1:p.Asp4285Val
NM_001377.2:c.12833A>T	NP_001368.2:p.Asp4278Val
ENST00000334267.11:c.2672A>T	ENSP00000334021.7:p.Asp891Val
ENST00000375735.6:c.12833A>T	ENSP00000364887.2:p.Asp4278Val
ENST00000398093.7:c.12854A>T	ENSP00000381167.3:p.Asp4285Val
ENST00000527252.1:n.385A>T
ENST00000528670.5:c.2016A>T	ENSP00000433451.1:n.2016A>T
ENST00000530547.1:n.564A>T
ENST00000533197.1:c.584A>T	ENSP00000436736.1:p.Asp195Val
ENST00000650373.1:c.12854A>T	ENSP00000497174.1:p.Asp4285Val
XM_006718903.2:c.12812A>T	XP_006718966.1:p.Asp4271Val
XM_017018291.1:c.12623A>T	XP_016873780.1:p.Asp4208Val
XM_017018292.1:c.12215A>T	XP_016873781.1:p.Asp4072Val