Canonical Allele Identifier: CA227412244

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103243766C>A , CM000673.2:g.103243766C>A	GRCh38
NC_000011.9:g.103114495C>A , CM000673.1:g.103114495C>A	GRCh37
NC_000011.8:g.102619705C>A	NCBI36
NG_016423.1:g.139336C>A
NG_016423.2:g.139336C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.9893C>A MANE Select	NP_001368.2:p.Ser3298Ter
ENST00000375735.7:c.9893C>A MANE Select	ENSP00000364887.2:p.Ser3298Ter
NM_001080463.2:c.9914C>A MANE Plus Clinical	NP_001073932.1:p.Ser3305Ter
ENST00000650373.2:c.9914C>A MANE Plus Clinical	ENSP00000497174.1:p.Ser3305Ter
NM_001080463.1:c.9914C>A	NP_001073932.1:p.Ser3305Ter
NM_001377.2:c.9893C>A	NP_001368.2:p.Ser3298Ter
ENST00000334267.11:c.2205+109347C>A	ENSP00000334021.7:n.2205+109347C>A
ENST00000375735.6:c.9893C>A	ENSP00000364887.2:p.Ser3298Ter
ENST00000398093.7:c.9914C>A	ENSP00000381167.3:p.Ser3305Ter
ENST00000650373.1:c.9914C>A	ENSP00000497174.1:p.Ser3305Ter
XM_006718903.2:c.9872C>A	XP_006718966.1:p.Ser3291Ter
XM_017018291.1:c.9893C>A	XP_016873780.1:p.Ser3298Ter
XM_017018292.1:c.9275C>A	XP_016873781.1:p.Ser3092Ter