Canonical Allele Identifier: CA6255711

Gene: DYNC2H1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103479238C>A , CM000673.2:g.103479238C>A	GRCh38
NC_000011.9:g.103349966C>A , CM000673.1:g.103349966C>A	GRCh37
NC_000011.8:g.102855176C>A	NCBI36
NG_016423.1:g.374807C>A
NG_016423.2:g.374808C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.12930C>A MANE Plus Clinical	ENSP00000497174.1:p.Phe4310Leu
ENST00000375735.7:c.12909C>A MANE Select	ENSP00000364887.2:p.Phe4303Leu
ENST00000650373.1:c.12930C>A	ENSP00000497174.1:p.Phe4310Leu
ENST00000334267.11:c.2748C>A	ENSP00000334021.7:p.Phe916Leu
ENST00000375735.6:c.12909C>A	ENSP00000364887.2:p.Phe4303Leu
ENST00000398093.7:c.12930C>A	ENSP00000381167.3:p.Phe4310Leu
ENST00000527252.1:n.461C>A
ENST00000528670.5:c.2092C>A	ENSP00000433451.1:n.2092C>A
ENST00000530547.1:n.640C>A
ENST00000533197.1:c.660C>A	ENSP00000436736.1:p.Phe220Leu
NM_001080463.1:c.12930C>A	NP_001073932.1:p.Phe4310Leu
NM_001377.2:c.12909C>A	NP_001368.2:p.Phe4303Leu
XM_006718903.2:c.12888C>A	XP_006718966.1:p.Phe4296Leu
XM_017018291.1:c.12699C>A	XP_016873780.1:p.Phe4233Leu
XM_017018292.1:c.12291C>A	XP_016873781.1:p.Phe4097Leu
NM_001377.3:c.12909C>A MANE Select	NP_001368.2:p.Phe4303Leu
NM_001080463.2:c.12930C>A MANE Plus Clinical	NP_001073932.1:p.Phe4310Leu