Canonical Allele Identifier: CA6255397

Gene: DYNC2H1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103321232A>C , CM000673.2:g.103321232A>C	GRCh38
NC_000011.9:g.103191961A>C , CM000673.1:g.103191961A>C	GRCh37
NC_000011.8:g.102697171A>C	NCBI36
NG_016423.1:g.216802A>C
NG_016423.2:g.216802A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.11950A>C MANE Plus Clinical	ENSP00000497174.1:p.Ile3984Leu
ENST00000375735.7:c.11929A>C MANE Select	ENSP00000364887.2:p.Ile3977Leu
ENST00000650373.1:c.11950A>C	ENSP00000497174.1:p.Ile3984Leu
ENST00000334267.11:c.2206-114711A>C	ENSP00000334021.7:n.2206-114711A>C
ENST00000375735.6:c.11929A>C	ENSP00000364887.2:p.Ile3977Leu
ENST00000398093.7:c.11950A>C	ENSP00000381167.3:p.Ile3984Leu
ENST00000528670.5:c.1108A>C	ENSP00000433451.1:p.Ile370Leu
NM_001080463.1:c.11950A>C	NP_001073932.1:p.Ile3984Leu
NM_001377.2:c.11929A>C	NP_001368.2:p.Ile3977Leu
XM_006718903.2:c.11908A>C	XP_006718966.1:p.Ile3970Leu
XM_017018291.1:c.11929A>C	XP_016873780.1:p.Ile3977Leu
XM_017018292.1:c.11311A>C	XP_016873781.1:p.Ile3771Leu
NM_001377.3:c.11929A>C MANE Select	NP_001368.2:p.Ile3977Leu
NM_001080463.2:c.11950A>C MANE Plus Clinical	NP_001073932.1:p.Ile3984Leu