Canonical Allele Identifier: CA210634

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103358360G>A , CM000673.2:g.103358360G>A	GRCh38
NC_000011.9:g.103229088G>A , CM000673.1:g.103229088G>A	GRCh37
NC_000011.8:g.102734298G>A	NCBI36
NG_016423.1:g.253929G>A
NG_016423.2:g.253930G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.12156+1G>A MANE Select	NP_001368.2:n.12156+1G>A
ENST00000375735.7:c.12156+1G>A MANE Select	ENSP00000364887.2:n.12156+1G>A
NM_001080463.2:c.12177+1G>A MANE Plus Clinical	NP_001073932.1:n.12177+1G>A
ENST00000650373.2:c.12177+1G>A MANE Plus Clinical	ENSP00000497174.1:n.12177+1G>A
NM_001080463.1:c.12177+1G>A	NP_001073932.1:n.12177+1G>A
NM_001377.2:c.12156+1G>A	NP_001368.2:n.12156+1G>A
ENST00000334267.11:c.2206-77583G>A	ENSP00000334021.7:n.2206-77583G>A
ENST00000375735.6:c.12156+1G>A	ENSP00000364887.2:n.12156+1G>A
ENST00000398093.7:c.12177+1G>A	ENSP00000381167.3:n.12177+1G>A
ENST00000528670.5:c.1339+1G>A	ENSP00000433451.1:n.1339+1G>A
ENST00000533197.1:c.117+1G>A	ENSP00000436736.1:n.117+1G>A
ENST00000650373.1:c.12177+1G>A	ENSP00000497174.1:n.12177+1G>A
XM_006718903.2:c.12135+1G>A	XP_006718966.1:n.12135+1G>A
XM_017018291.1:c.12156+1G>A	XP_016873780.1:n.12156+1G>A
XM_017018292.1:c.11538+1G>A	XP_016873781.1:n.11538+1G>A