Canonical Allele Identifier: CA6255042

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103280381C>T , CM000673.2:g.103280381C>T	GRCh38
NC_000011.9:g.103151110C>T , CM000673.1:g.103151110C>T	GRCh37
NC_000011.8:g.102656320C>T	NCBI36
NG_016423.1:g.175951C>T
NG_016423.2:g.175951C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.10729C>T MANE Select	NP_001368.2:p.Arg3577Ter
ENST00000375735.7:c.10729C>T MANE Select	ENSP00000364887.2:p.Arg3577Ter
NM_001080463.2:c.10750C>T MANE Plus Clinical	NP_001073932.1:p.Arg3584Ter
ENST00000650373.2:c.10750C>T MANE Plus Clinical	ENSP00000497174.1:p.Arg3584Ter
NM_001080463.1:c.10750C>T	NP_001073932.1:p.Arg3584Ter
NM_001377.2:c.10729C>T	NP_001368.2:p.Arg3577Ter
ENST00000334267.11:c.2205+145962C>T	ENSP00000334021.7:n.2205+145962C>T
ENST00000375735.6:c.10729C>T	ENSP00000364887.2:p.Arg3577Ter
ENST00000398093.7:c.10750C>T	ENSP00000381167.3:p.Arg3584Ter
ENST00000650373.1:c.10750C>T	ENSP00000497174.1:p.Arg3584Ter
XM_006718903.2:c.10708C>T	XP_006718966.1:p.Arg3570Ter
XM_017018291.1:c.10729C>T	XP_016873780.1:p.Arg3577Ter
XM_017018292.1:c.10111C>T	XP_016873781.1:p.Arg3371Ter