Canonical Allele Identifier: CA443248809

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2905074
• ClinVar RCV Id: RCV003651570
• gnomAD v4: 5-13692119-C-T
• MyVariant Identifiers: chr5:g.13692228C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692119C>T , CM000667.2:g.13692119C>T	GRCh38
NC_000005.9:g.13692228C>T , CM000667.1:g.13692228C>T	GRCh37
NC_000005.8:g.13745228C>T	NCBI36
NG_013081.1:g.257362G>A
NG_013081.2:g.257362G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1073G>A
ENST00000265104.5:c.13740G>A MANE Select	ENSP00000265104.4:p.Arg4580=
ENST00000681290.1:c.13695G>A	ENSP00000505288.1:p.Arg4565=
ENST00000265104.4:c.13740G>A	ENSP00000265104.4:p.Arg4580=
NM_001369.2:c.13740G>A	NP_001360.1:p.Arg4580=
XM_005248262.2:c.13695G>A	XP_005248319.1:p.Arg4565=
XM_005248262.3:c.13848G>A	XP_005248319.2:p.Arg4616=
XM_017009177.1:c.13428G>A	XP_016864666.1:p.Arg4476=
XM_017009178.1:c.12753G>A	XP_016864667.1:p.Arg4251=
XM_017009179.2:c.12753G>A	XP_016864668.1:p.Arg4251=
XM_017009185.1:c.8937G>A	XP_016864674.1:p.Arg2979=
XM_017009186.1:c.8490G>A	XP_016864675.1:p.Arg2830=
XM_017009188.1:c.7827G>A	XP_016864677.1:p.Arg2609=
XM_024454388.1:c.12753G>A	XP_024310156.1:p.Arg4251=
XM_024454389.1:c.12342G>A	XP_024310157.1:p.Arg4114=
NM_001369.3:c.13740G>A MANE Select	NP_001360.1:p.Arg4580=