Canonical Allele Identifier: CA382265306
Community Standard Title: NM_001377.3(DYNC2H1):c.9310G>T (p.Glu3104Ter)
Gene: DYNC2H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103223043G>T , CM000673.2:g.103223043G>T GRCh38
NC_000011.9:g.103093772G>T , CM000673.1:g.103093772G>T GRCh37
NC_000011.8:g.102598982G>T NCBI36
NG_016423.1:g.118613G>T
NG_016423.2:g.118613G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001377.3:c.9310G>T MANE Select NP_001368.2:p.Glu3104Ter
ENST00000375735.7:c.9310G>T MANE Select ENSP00000364887.2:p.Glu3104Ter
NM_001080463.2:c.9310G>T MANE Plus Clinical NP_001073932.1:p.Glu3104Ter
ENST00000650373.2:c.9310G>T MANE Plus Clinical ENSP00000497174.1:p.Glu3104Ter
NM_001080463.1:c.9310G>T NP_001073932.1:p.Glu3104Ter
NM_001377.2:c.9310G>T NP_001368.2:p.Glu3104Ter
ENST00000334267.11:c.2205+88624G>T ENSP00000334021.7:n.2205+88624G>T
ENST00000375735.6:c.9310G>T ENSP00000364887.2:p.Glu3104Ter
ENST00000398093.7:c.9310G>T ENSP00000381167.3:p.Glu3104Ter
ENST00000650373.1:c.9310G>T ENSP00000497174.1:p.Glu3104Ter
XM_006718903.2:c.9289G>T XP_006718966.1:p.Glu3097Ter
XM_017018291.1:c.9310G>T XP_016873780.1:p.Glu3104Ter
XM_017018292.1:c.8692G>T XP_016873781.1:p.Glu2898Ter