Canonical Allele Identifier: CA6255145

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103287559G>A , CM000673.2:g.103287559G>A	GRCh38
NC_000011.9:g.103158288G>A , CM000673.1:g.103158288G>A	GRCh37
NC_000011.8:g.102663498G>A	NCBI36
NG_016423.1:g.183129G>A
NG_016423.2:g.183129G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.11049G>A MANE Select	NP_001368.2:p.Pro3683=
ENST00000375735.7:c.11049G>A MANE Select	ENSP00000364887.2:p.Pro3683=
NM_001080463.2:c.11070G>A MANE Plus Clinical	NP_001073932.1:p.Pro3690=
ENST00000650373.2:c.11070G>A MANE Plus Clinical	ENSP00000497174.1:p.Pro3690=
NM_001080463.1:c.11070G>A	NP_001073932.1:p.Pro3690=
NM_001377.2:c.11049G>A	NP_001368.2:p.Pro3683=
ENST00000334267.11:c.2206-148384G>A	ENSP00000334021.7:n.2206-148384G>A
ENST00000375735.6:c.11049G>A	ENSP00000364887.2:p.Pro3683=
ENST00000398093.7:c.11070G>A	ENSP00000381167.3:p.Pro3690=
ENST00000525306.1:n.310G>A
ENST00000528670.5:c.228G>A	ENSP00000433451.1:p.Pro76=
ENST00000650373.1:c.11070G>A	ENSP00000497174.1:p.Pro3690=
XM_006718903.2:c.11028G>A	XP_006718966.1:p.Pro3676=
XM_017018291.1:c.11049G>A	XP_016873780.1:p.Pro3683=
XM_017018292.1:c.10431G>A	XP_016873781.1:p.Pro3477=