Canonical Allele Identifier: CA3202507
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 454815
dbSNP Id: rs573476401
gnomAD v2: 5-13770873-C-T
gnomAD v3: 5-13770764-C-T
gnomAD v4: 5-13770764-C-T
COSMIC: COSM70488

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13770764C>T , CM000667.2:g.13770764C>T GRCh38
NC_000005.9:g.13770873C>T , CM000667.1:g.13770873C>T GRCh37
NC_000005.8:g.13823873C>T NCBI36
NG_013081.1:g.178717G>A
NG_013081.2:g.178717G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9590G>A MANE Select ENSP00000265104.4:p.Arg3197Gln
ENST00000681290.1:c.9545G>A ENSP00000505288.1:p.Arg3182Gln
ENST00000265104.4:c.9590G>A ENSP00000265104.4:p.Arg3197Gln
ENST00000504001.3:n.302G>A
NM_001369.2:c.9590G>A NP_001360.1:p.Arg3197Gln
XM_005248262.2:c.9545G>A XP_005248319.1:p.Arg3182Gln
XM_005248262.3:c.9698G>A XP_005248319.2:p.Arg3233Gln
XM_017009177.1:c.9698G>A XP_016864666.1:p.Arg3233Gln
XM_017009178.1:c.8603G>A XP_016864667.1:p.Arg2868Gln
XM_017009179.2:c.8603G>A XP_016864668.1:p.Arg2868Gln
XM_017009180.1:c.9698G>A XP_016864669.1:p.Arg3233Gln
XM_017009181.1:c.9698G>A XP_016864670.1:p.Arg3233Gln
XM_017009182.1:c.9698G>A XP_016864671.1:p.Arg3233Gln
XM_017009183.1:c.9698G>A XP_016864672.1:p.Arg3233Gln
XM_017009185.1:c.4787G>A XP_016864674.1:p.Arg1596Gln
XM_017009186.1:c.4340G>A XP_016864675.1:p.Arg1447Gln
XM_017009188.1:c.3677G>A XP_016864677.1:p.Arg1226Gln
XM_024454388.1:c.8603G>A XP_024310156.1:p.Arg2868Gln
XM_024454389.1:c.8192G>A XP_024310157.1:p.Arg2731Gln
NM_001369.3:c.9590G>A MANE Select NP_001360.1:p.Arg3197Gln