Canonical Allele Identifier: CA247876

Gene: DYNC2H1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103321228C>T , CM000673.2:g.103321228C>T	GRCh38
NC_000011.9:g.103191957C>T , CM000673.1:g.103191957C>T	GRCh37
NC_000011.8:g.102697167C>T	NCBI36
NG_016423.1:g.216798C>T
NG_016423.2:g.216798C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.11946C>T MANE Plus Clinical	ENSP00000497174.1:p.Cys3982=
ENST00000375735.7:c.11925C>T MANE Select	ENSP00000364887.2:p.Cys3975=
ENST00000650373.1:c.11946C>T	ENSP00000497174.1:p.Cys3982=
ENST00000334267.11:c.2206-114715C>T	ENSP00000334021.7:n.2206-114715C>T
ENST00000375735.6:c.11925C>T	ENSP00000364887.2:p.Cys3975=
ENST00000398093.7:c.11946C>T	ENSP00000381167.3:p.Cys3982=
ENST00000528670.5:c.1104C>T	ENSP00000433451.1:p.Cys368=
NM_001080463.1:c.11946C>T	NP_001073932.1:p.Cys3982=
NM_001377.2:c.11925C>T	NP_001368.2:p.Cys3975=
XM_006718903.2:c.11904C>T	XP_006718966.1:p.Cys3968=
XM_017018291.1:c.11925C>T	XP_016873780.1:p.Cys3975=
XM_017018292.1:c.11307C>T	XP_016873781.1:p.Cys3769=
NM_001377.3:c.11925C>T MANE Select	NP_001368.2:p.Cys3975=
NM_001080463.2:c.11946C>T MANE Plus Clinical	NP_001073932.1:p.Cys3982=