Canonical Allele Identifier: CA16042810
Gene: DYNC2H1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373013

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103165911C>T , CM000673.2:g.103165911C>T GRCh38
NC_000011.9:g.103036640C>T , CM000673.1:g.103036640C>T GRCh37
NC_000011.8:g.102541850C>T NCBI36
NG_016423.1:g.61481C>T
NG_016423.2:g.61481C>T

Transcript Alleles

HGVS Amino-acid change
NM_001080463.1:c.4625C>T VV NP_001073932.1:p.Ala1542Val
NM_001377.2:c.4625C>T VV NP_001368.2:p.Ala1542Val
XM_006718903.2:c.4625C>T XP_006718966.1:p.Ala1542Val
XM_017018291.1:c.4625C>T XP_016873780.1:p.Ala1542Val
XM_017018292.1:c.4007C>T XP_016873781.1:p.Ala1336Val
XM_017018293.1:c.4625C>T XP_016873782.1:p.Ala1542Val
NM_001377.3:c.4625C>T VV MANE Preferred NP_001368.2:p.Ala1542Val
ENST00000334267.11:c.2205+31492C>T ENSP00000334021.7:p.=
ENST00000375735.6:c.4625C>T ENSP00000364887.2:p.Ala1542Val
ENST00000398093.7:n.4625C>T ENSP00000381167.3:p.Ala1542Val