Canonical Allele Identifier: CA1996410745
Gene: DYNC2H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103165915G= , CM000673.2:g.103165915G= GRCh38
NC_000011.9:g.103036644G= , CM000673.1:g.103036644G= GRCh37
NC_000011.8:g.102541854G= NCBI36
NG_016423.1:g.61485G=
NG_016423.2:g.61485G=

Transcript Alleles

HGVS Amino-acid change
ENST00000650373.2:c.4629G= MANE Plus Clinical ENSP00000497174.1:p.Glu1543=
ENST00000375735.7:c.4629G= MANE Select ENSP00000364887.2:p.Glu1543=
ENST00000649323.1:c.*2174G= ENSP00000497581.1:n.*2174G=
ENST00000650373.1:c.4629G= ENSP00000497174.1:p.Glu1543=
ENST00000334267.11:c.2205+31496G= ENSP00000334021.7:n.2205+31496G=
ENST00000375735.6:c.4629G= ENSP00000364887.2:p.Glu1543=
ENST00000398093.7:c.4629G= ENSP00000381167.3:p.Glu1543=
NM_001080463.1:c.4629G= NP_001073932.1:p.Glu1543=
NM_001377.2:c.4629G= NP_001368.2:p.Glu1543=
XM_006718903.2:c.4629G= XP_006718966.1:p.Glu1543=
XM_017018291.1:c.4629G= XP_016873780.1:p.Glu1543=
XM_017018292.1:c.4011G= XP_016873781.1:p.Glu1337=
XM_017018293.1:c.4629G= XP_016873782.1:p.Glu1543=
NM_001377.3:c.4629G= MANE Select NP_001368.2:p.Glu1543=
NM_001080463.2:c.4629G= MANE Plus Clinical NP_001073932.1:p.Glu1543=