Canonical Allele Identifier: CA6255393

Gene: DYNC2H1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103321208G>A , CM000673.2:g.103321208G>A	GRCh38
NC_000011.9:g.103191937G>A , CM000673.1:g.103191937G>A	GRCh37
NC_000011.8:g.102697147G>A	NCBI36
NG_016423.1:g.216778G>A
NG_016423.2:g.216778G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.11926G>A MANE Plus Clinical	ENSP00000497174.1:p.Val3976Ile
ENST00000375735.7:c.11905G>A MANE Select	ENSP00000364887.2:p.Val3969Ile
ENST00000650373.1:c.11926G>A	ENSP00000497174.1:p.Val3976Ile
ENST00000334267.11:c.2206-114735G>A	ENSP00000334021.7:n.2206-114735G>A
ENST00000375735.6:c.11905G>A	ENSP00000364887.2:p.Val3969Ile
ENST00000398093.7:c.11926G>A	ENSP00000381167.3:p.Val3976Ile
ENST00000528670.5:c.1084G>A	ENSP00000433451.1:p.Val362Ile
NM_001080463.1:c.11926G>A	NP_001073932.1:p.Val3976Ile
NM_001377.2:c.11905G>A	NP_001368.2:p.Val3969Ile
XM_006718903.2:c.11884G>A	XP_006718966.1:p.Val3962Ile
XM_017018291.1:c.11905G>A	XP_016873780.1:p.Val3969Ile
XM_017018292.1:c.11287G>A	XP_016873781.1:p.Val3763Ile
NM_001377.3:c.11905G>A MANE Select	NP_001368.2:p.Val3969Ile
NM_001080463.2:c.11926G>A MANE Plus Clinical	NP_001073932.1:p.Val3976Ile