Canonical Allele Identifier: CA6255553

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103436016G>A , CM000673.2:g.103436016G>A	GRCh38
NC_000011.9:g.103306744G>A , CM000673.1:g.103306744G>A	GRCh37
NC_000011.8:g.102811954G>A	NCBI36
NG_016423.1:g.331585G>A
NG_016423.2:g.331586G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001377.3:c.12440G>A MANE Select	NP_001368.2:p.Arg4147His
ENST00000375735.7:c.12440G>A MANE Select	ENSP00000364887.2:p.Arg4147His
NM_001080463.2:c.12461G>A MANE Plus Clinical	NP_001073932.1:p.Arg4154His
ENST00000650373.2:c.12461G>A MANE Plus Clinical	ENSP00000497174.1:p.Arg4154His
NM_001080463.1:c.12461G>A	NP_001073932.1:p.Arg4154His
NM_001377.2:c.12440G>A	NP_001368.2:p.Arg4147His
ENST00000334267.11:c.2279G>A	ENSP00000334021.7:p.Arg760His
ENST00000375735.6:c.12440G>A	ENSP00000364887.2:p.Arg4147His
ENST00000398093.7:c.12461G>A	ENSP00000381167.3:p.Arg4154His
ENST00000528670.5:c.1623G>A	ENSP00000433451.1:n.1623G>A
ENST00000533197.1:c.191G>A	ENSP00000436736.1:p.Arg64His
ENST00000650373.1:c.12461G>A	ENSP00000497174.1:p.Arg4154His
XM_006718903.2:c.12419G>A	XP_006718966.1:p.Arg4140His
XM_017018291.1:c.12230G>A	XP_016873780.1:p.Arg4077His
XM_017018292.1:c.11822G>A	XP_016873781.1:p.Arg3941His