Canonical Allele Identifier: CA382289669

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103456274G>A , CM000673.2:g.103456274G>A	GRCh38
NC_000011.9:g.103327002G>A , CM000673.1:g.103327002G>A	GRCh37
NC_000011.8:g.102832212G>A	NCBI36
NG_016423.1:g.351843G>A
NG_016423.2:g.351844G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.12567-1G>A MANE Select	NP_001368.2:n.12567-1G>A
ENST00000375735.7:c.12567-1G>A MANE Select	ENSP00000364887.2:n.12567-1G>A
NM_001080463.2:c.12588-1G>A MANE Plus Clinical	NP_001073932.1:n.12588-1G>A
ENST00000650373.2:c.12588-1G>A MANE Plus Clinical	ENSP00000497174.1:n.12588-1G>A
NM_001080463.1:c.12588-1G>A	NP_001073932.1:n.12588-1G>A
NM_001377.2:c.12567-1G>A	NP_001368.2:n.12567-1G>A
ENST00000334267.11:c.2406-1G>A	ENSP00000334021.7:n.2406-1G>A
ENST00000375735.6:c.12567-1G>A	ENSP00000364887.2:n.12567-1G>A
ENST00000398093.7:c.12588-1G>A	ENSP00000381167.3:n.12588-1G>A
ENST00000528670.5:c.1750-1G>A	ENSP00000433451.1:n.1750-1G>A
ENST00000530547.1:n.298-1G>A
ENST00000533197.1:c.318-1G>A	ENSP00000436736.1:n.318-1G>A
ENST00000650373.1:c.12588-1G>A	ENSP00000497174.1:n.12588-1G>A
XM_006718903.2:c.12546-1G>A	XP_006718966.1:n.12546-1G>A
XM_017018291.1:c.12357-1G>A	XP_016873780.1:n.12357-1G>A
XM_017018292.1:c.11949-1G>A	XP_016873781.1:n.11949-1G>A