Canonical Allele Identifier: CA359225309
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 644734
ClinVar RCV Id: RCV000798716
dbSNP Id: rs374858945
gnomAD v4: 5-13735926-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13735926G>C , CM000667.2:g.13735926G>C GRCh38
NC_000005.9:g.13736035G>C , CM000667.1:g.13736035G>C GRCh37
NC_000005.8:g.13789035G>C NCBI36
NG_013081.1:g.213555C>G
NG_013081.2:g.213555C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.11462C>G MANE Select ENSP00000265104.4:p.Thr3821Arg
ENST00000681290.1:c.11417C>G ENSP00000505288.1:p.Thr3806Arg
ENST00000265104.4:c.11462C>G ENSP00000265104.4:p.Thr3821Arg
NM_001369.2:c.11462C>G NP_001360.1:p.Thr3821Arg
XM_005248262.2:c.11417C>G XP_005248319.1:p.Thr3806Arg
XM_005248262.3:c.11570C>G XP_005248319.2:p.Thr3857Arg
XM_017009177.1:c.11570C>G XP_016864666.1:p.Thr3857Arg
XM_017009178.1:c.10475C>G XP_016864667.1:p.Thr3492Arg
XM_017009179.2:c.10475C>G XP_016864668.1:p.Thr3492Arg
XM_017009180.1:c.11570C>G XP_016864669.1:p.Thr3857Arg
XM_017009181.1:c.11570C>G XP_016864670.1:p.Thr3857Arg
XM_017009182.1:c.11326C>G XP_016864671.1:p.Arg3776Gly
XM_017009185.1:c.6659C>G XP_016864674.1:p.Thr2220Arg
XM_017009186.1:c.6212C>G XP_016864675.1:p.Thr2071Arg
XM_017009188.1:c.5549C>G XP_016864677.1:p.Thr1850Arg
XM_024454388.1:c.10475C>G XP_024310156.1:p.Thr3492Arg
XM_024454389.1:c.10064C>G XP_024310157.1:p.Thr3355Arg
NM_001369.3:c.11462C>G MANE Select NP_001360.1:p.Thr3821Arg