Canonical Allele Identifier: CA337431

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103323958G>A , CM000673.2:g.103323958G>A	GRCh38
NC_000011.9:g.103194686G>A , CM000673.1:g.103194686G>A	GRCh37
NC_000011.8:g.102699896G>A	NCBI36
NG_016423.1:g.219527G>A
NG_016423.2:g.219528G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.12028G>A MANE Plus Clinical	ENSP00000497174.1:p.Ala4010Thr
ENST00000375735.7:c.12007G>A MANE Select	ENSP00000364887.2:p.Ala4003Thr
ENST00000650373.1:c.12028G>A	ENSP00000497174.1:p.Ala4010Thr
ENST00000334267.11:c.2206-111985G>A	ENSP00000334021.7:n.2206-111985G>A
ENST00000375735.6:c.12007G>A	ENSP00000364887.2:p.Ala4003Thr
ENST00000398093.7:c.12028G>A	ENSP00000381167.3:p.Ala4010Thr
ENST00000528670.5:c.1190G>A	ENSP00000433451.1:n.1190G>A
NM_001080463.1:c.12028G>A	NP_001073932.1:p.Ala4010Thr
NM_001377.2:c.12007G>A	NP_001368.2:p.Ala4003Thr
XM_006718903.2:c.11986G>A	XP_006718966.1:p.Ala3996Thr
XM_017018291.1:c.12007G>A	XP_016873780.1:p.Ala4003Thr
XM_017018292.1:c.11389G>A	XP_016873781.1:p.Ala3797Thr
NM_001377.3:c.12007G>A MANE Select	NP_001368.2:p.Ala4003Thr
NM_001080463.2:c.12028G>A MANE Plus Clinical	NP_001073932.1:p.Ala4010Thr