Canonical Allele Identifier: CA10629737

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103286339C>G , CM000673.2:g.103286339C>G	GRCh38
NC_000011.9:g.103157068C>G , CM000673.1:g.103157068C>G	GRCh37
NC_000011.8:g.102662278C>G	NCBI36
NG_016423.1:g.181909C>G
NG_016423.2:g.181909C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.10975C>G MANE Select	NP_001368.2:p.Gln3659Glu
ENST00000375735.7:c.10975C>G MANE Select	ENSP00000364887.2:p.Gln3659Glu
NM_001080463.2:c.10996C>G MANE Plus Clinical	NP_001073932.1:p.Gln3666Glu
ENST00000650373.2:c.10996C>G MANE Plus Clinical	ENSP00000497174.1:p.Gln3666Glu
NM_001080463.1:c.10996C>G	NP_001073932.1:p.Gln3666Glu
NM_001377.2:c.10975C>G	NP_001368.2:p.Gln3659Glu
ENST00000334267.11:c.2206-149604C>G	ENSP00000334021.7:n.2206-149604C>G
ENST00000375735.6:c.10975C>G	ENSP00000364887.2:p.Gln3659Glu
ENST00000398093.7:c.10996C>G	ENSP00000381167.3:p.Gln3666Glu
ENST00000525306.1:n.236C>G
ENST00000528670.5:c.154C>G	ENSP00000433451.1:p.Gln52Glu
ENST00000650373.1:c.10996C>G	ENSP00000497174.1:p.Gln3666Glu
XM_006718903.2:c.10954C>G	XP_006718966.1:p.Gln3652Glu
XM_017018291.1:c.10975C>G	XP_016873780.1:p.Gln3659Glu
XM_017018292.1:c.10357C>G	XP_016873781.1:p.Gln3453Glu