Canonical Allele Identifier: CA359192142

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2897799
• ClinVar RCV Id: RCV003651339
• gnomAD v4: 5-13753489-C-G
• MyVariant Identifiers: chr5:g.13753598C>G (hg19) ; chr5:g.13753489C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753489C>G , CM000667.2:g.13753489C>G	GRCh38
NC_000005.9:g.13753598C>G , CM000667.1:g.13753598C>G	GRCh37
NC_000005.8:g.13806598C>G	NCBI36
NG_013081.1:g.195992G>C
NG_013081.2:g.195992G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10616G>C MANE Select	ENSP00000265104.4:p.Arg3539Pro
ENST00000681290.1:c.10571G>C	ENSP00000505288.1:p.Arg3524Pro
ENST00000265104.4:c.10616G>C	ENSP00000265104.4:p.Arg3539Pro
NM_001369.2:c.10616G>C	NP_001360.1:p.Arg3539Pro
XM_005248262.2:c.10571G>C	XP_005248319.1:p.Arg3524Pro
XM_005248262.3:c.10724G>C	XP_005248319.2:p.Arg3575Pro
XM_017009177.1:c.10724G>C	XP_016864666.1:p.Arg3575Pro
XM_017009178.1:c.9629G>C	XP_016864667.1:p.Arg3210Pro
XM_017009179.2:c.9629G>C	XP_016864668.1:p.Arg3210Pro
XM_017009180.1:c.10724G>C	XP_016864669.1:p.Arg3575Pro
XM_017009181.1:c.10724G>C	XP_016864670.1:p.Arg3575Pro
XM_017009182.1:c.10724G>C	XP_016864671.1:p.Arg3575Pro
XM_017009185.1:c.5813G>C	XP_016864674.1:p.Arg1938Pro
XM_017009186.1:c.5366G>C	XP_016864675.1:p.Arg1789Pro
XM_017009188.1:c.4703G>C	XP_016864677.1:p.Arg1568Pro
XM_024454388.1:c.9629G>C	XP_024310156.1:p.Arg3210Pro
XM_024454389.1:c.9218G>C	XP_024310157.1:p.Arg3073Pro
NM_001369.3:c.10616G>C MANE Select	NP_001360.1:p.Arg3539Pro