Canonical Allele Identifier: CA3201418

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1920025
• ClinVar RCV Id: RCV002590950 ; RCV002590951
• dbSNP Id: rs202034094
• ExAC: 5:13708347 C / T
• gnomAD v2: 5-13708347-C-T
• gnomAD v3: 5-13708238-C-T
• gnomAD v4: 5-13708238-C-T
• MyVariant Identifiers: chr5:g.13708347C>T (hg19) ; chr5:g.13708238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708238C>T , CM000667.2:g.13708238C>T	GRCh38
NC_000005.9:g.13708347C>T , CM000667.1:g.13708347C>T	GRCh37
NC_000005.8:g.13761347C>T	NCBI36
NG_013081.1:g.241243G>A
NG_013081.2:g.241243G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.556G>A
ENST00000265104.5:c.13223G>A MANE Select	ENSP00000265104.4:p.Arg4408His
ENST00000681290.1:c.13178G>A	ENSP00000505288.1:p.Arg4393His
ENST00000265104.4:c.13223G>A	ENSP00000265104.4:p.Arg4408His
NM_001369.2:c.13223G>A	NP_001360.1:p.Arg4408His
XM_005248262.2:c.13178G>A	XP_005248319.1:p.Arg4393His
XM_005248262.3:c.13331G>A	XP_005248319.2:p.Arg4444His
XM_017009177.1:c.12911G>A	XP_016864666.1:p.Arg4304His
XM_017009178.1:c.12236G>A	XP_016864667.1:p.Arg4079His
XM_017009179.2:c.12236G>A	XP_016864668.1:p.Arg4079His
XM_017009185.1:c.8420G>A	XP_016864674.1:p.Arg2807His
XM_017009186.1:c.7973G>A	XP_016864675.1:p.Arg2658His
XM_017009188.1:c.7310G>A	XP_016864677.1:p.Arg2437His
XM_024454388.1:c.12236G>A	XP_024310156.1:p.Arg4079His
XM_024454389.1:c.11825G>A	XP_024310157.1:p.Arg3942His
NM_001369.3:c.13223G>A MANE Select	NP_001360.1:p.Arg4408His