Canonical Allele Identifier: CA6254730

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103235689G>C , CM000673.2:g.103235689G>C	GRCh38
NC_000011.9:g.103106418G>C , CM000673.1:g.103106418G>C	GRCh37
NC_000011.8:g.102611628G>C	NCBI36
NG_016423.1:g.131259G>C
NG_016423.2:g.131259G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.9585G>C MANE Plus Clinical	ENSP00000497174.1:p.Glu3195Asp
ENST00000375735.7:c.9585G>C MANE Select	ENSP00000364887.2:p.Glu3195Asp
ENST00000650373.1:c.9585G>C	ENSP00000497174.1:p.Glu3195Asp
ENST00000334267.11:c.2205+101270G>C	ENSP00000334021.7:n.2205+101270G>C
ENST00000375735.6:c.9585G>C	ENSP00000364887.2:p.Glu3195Asp
ENST00000398093.7:c.9585G>C	ENSP00000381167.3:p.Glu3195Asp
NM_001080463.1:c.9585G>C	NP_001073932.1:p.Glu3195Asp
NM_001377.2:c.9585G>C	NP_001368.2:p.Glu3195Asp
XM_006718903.2:c.9564G>C	XP_006718966.1:p.Glu3188Asp
XM_017018291.1:c.9585G>C	XP_016873780.1:p.Glu3195Asp
XM_017018292.1:c.8967G>C	XP_016873781.1:p.Glu2989Asp
NM_001377.3:c.9585G>C MANE Select	NP_001368.2:p.Glu3195Asp
NM_001080463.2:c.9585G>C MANE Plus Clinical	NP_001073932.1:p.Glu3195Asp