Canonical Allele Identifier: CA359189717

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2440916
• ClinVar RCV Id: RCV003146745
• gnomAD v4: 5-13752157-T-G
• MyVariant Identifiers: chr5:g.13752266T>G (hg19) ; chr5:g.13752157T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752157T>G , CM000667.2:g.13752157T>G	GRCh38
NC_000005.9:g.13752266T>G , CM000667.1:g.13752266T>G	GRCh37
NC_000005.8:g.13805266T>G	NCBI36
NG_013081.1:g.197324A>C
NG_013081.2:g.197324A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.11005A>C MANE Select	ENSP00000265104.4:p.Ile3669Leu
ENST00000681290.1:c.10960A>C	ENSP00000505288.1:p.Ile3654Leu
ENST00000265104.4:c.11005A>C	ENSP00000265104.4:p.Ile3669Leu
NM_001369.2:c.11005A>C	NP_001360.1:p.Ile3669Leu
XM_005248262.2:c.10960A>C	XP_005248319.1:p.Ile3654Leu
XM_005248262.3:c.11113A>C	XP_005248319.2:p.Ile3705Leu
XM_017009177.1:c.11113A>C	XP_016864666.1:p.Ile3705Leu
XM_017009178.1:c.10018A>C	XP_016864667.1:p.Ile3340Leu
XM_017009179.2:c.10018A>C	XP_016864668.1:p.Ile3340Leu
XM_017009180.1:c.11113A>C	XP_016864669.1:p.Ile3705Leu
XM_017009181.1:c.11113A>C	XP_016864670.1:p.Ile3705Leu
XM_017009182.1:c.11113A>C	XP_016864671.1:p.Ile3705Leu
XM_017009185.1:c.6202A>C	XP_016864674.1:p.Ile2068Leu
XM_017009186.1:c.5755A>C	XP_016864675.1:p.Ile1919Leu
XM_017009188.1:c.5092A>C	XP_016864677.1:p.Ile1698Leu
XM_024454388.1:c.10018A>C	XP_024310156.1:p.Ile3340Leu
XM_024454389.1:c.9607A>C	XP_024310157.1:p.Ile3203Leu
NM_001369.3:c.11005A>C MANE Select	NP_001360.1:p.Ile3669Leu