Canonical Allele Identifier: CA3201244
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 238964
dbSNP Id: rs367709427
gnomAD v2: 5-13692193-C-T
gnomAD v3: 5-13692084-C-T
gnomAD v4: 5-13692084-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13692084C>T , CM000667.2:g.13692084C>T GRCh38
NC_000005.9:g.13692193C>T , CM000667.1:g.13692193C>T GRCh37
NC_000005.8:g.13745193C>T NCBI36
NG_013081.1:g.257397G>A
NG_013081.2:g.257397G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683611.1:n.1108G>A
ENST00000265104.5:c.13775G>A MANE Select ENSP00000265104.4:p.Arg4592Gln
ENST00000681290.1:c.13730G>A ENSP00000505288.1:p.Arg4577Gln
ENST00000265104.4:c.13775G>A ENSP00000265104.4:p.Arg4592Gln
NM_001369.2:c.13775G>A NP_001360.1:p.Arg4592Gln
XM_005248262.2:c.13730G>A XP_005248319.1:p.Arg4577Gln
XM_005248262.3:c.13883G>A XP_005248319.2:p.Arg4628Gln
XM_017009177.1:c.13463G>A XP_016864666.1:p.Arg4488Gln
XM_017009178.1:c.12788G>A XP_016864667.1:p.Arg4263Gln
XM_017009179.2:c.12788G>A XP_016864668.1:p.Arg4263Gln
XM_017009185.1:c.8972G>A XP_016864674.1:p.Arg2991Gln
XM_017009186.1:c.8525G>A XP_016864675.1:p.Arg2842Gln
XM_017009188.1:c.7862G>A XP_016864677.1:p.Arg2621Gln
XM_024454388.1:c.12788G>A XP_024310156.1:p.Arg4263Gln
XM_024454389.1:c.12377G>A XP_024310157.1:p.Arg4126Gln
NM_001369.3:c.13775G>A MANE Select NP_001360.1:p.Arg4592Gln