Canonical Allele Identifier: CA6255571
Gene: DYNC2H1 HGNC NCBI
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103455173T>C , CM000673.2:g.103455173T>C GRCh38
NC_000011.9:g.103325901T>C , CM000673.1:g.103325901T>C GRCh37
NC_000011.8:g.102831111T>C NCBI36
NG_016423.1:g.350742T>C
NG_016423.2:g.350743T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.12478-13T>C MANE Plus Clinical ENSP00000497174.1:n.12478-13T>C
ENST00000375735.7:c.12457-13T>C MANE Select ENSP00000364887.2:n.12457-13T>C
ENST00000650373.1:c.12478-13T>C ENSP00000497174.1:n.12478-13T>C
ENST00000334267.11:c.2296-13T>C ENSP00000334021.7:n.2296-13T>C
ENST00000375735.6:c.12457-13T>C ENSP00000364887.2:n.12457-13T>C
ENST00000398093.7:c.12478-13T>C ENSP00000381167.3:n.12478-13T>C
ENST00000528670.5:c.1640-13T>C ENSP00000433451.1:n.1640-13T>C
ENST00000530547.1:n.175T>C
ENST00000533197.1:c.208-13T>C ENSP00000436736.1:n.208-13T>C
NM_001080463.1:c.12478-13T>C NP_001073932.1:n.12478-13T>C
NM_001377.2:c.12457-13T>C NP_001368.2:n.12457-13T>C
XM_006718903.2:c.12436-13T>C XP_006718966.1:n.12436-13T>C
XM_017018291.1:c.12247-13T>C XP_016873780.1:n.12247-13T>C
XM_017018292.1:c.11839-13T>C XP_016873781.1:n.11839-13T>C
NM_001377.3:c.12457-13T>C MANE Select NP_001368.2:n.12457-13T>C
NM_001080463.2:c.12478-13T>C MANE Plus Clinical NP_001073932.1:n.12478-13T>C