Canonical Allele Identifier: CA359189953

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2069169
• ClinVar RCV Id: RCV002961950
• MyVariant Identifiers: chr5:g.13752298G>A (hg19) ; chr5:g.13752189G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752189G>A , CM000667.2:g.13752189G>A	GRCh38
NC_000005.9:g.13752298G>A , CM000667.1:g.13752298G>A	GRCh37
NC_000005.8:g.13805298G>A	NCBI36
NG_013081.1:g.197292C>T
NG_013081.2:g.197292C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10973C>T MANE Select	ENSP00000265104.4:p.Pro3658Leu
ENST00000681290.1:c.10928C>T	ENSP00000505288.1:p.Pro3643Leu
ENST00000265104.4:c.10973C>T	ENSP00000265104.4:p.Pro3658Leu
NM_001369.2:c.10973C>T	NP_001360.1:p.Pro3658Leu
XM_005248262.2:c.10928C>T	XP_005248319.1:p.Pro3643Leu
XM_005248262.3:c.11081C>T	XP_005248319.2:p.Pro3694Leu
XM_017009177.1:c.11081C>T	XP_016864666.1:p.Pro3694Leu
XM_017009178.1:c.9986C>T	XP_016864667.1:p.Pro3329Leu
XM_017009179.2:c.9986C>T	XP_016864668.1:p.Pro3329Leu
XM_017009180.1:c.11081C>T	XP_016864669.1:p.Pro3694Leu
XM_017009181.1:c.11081C>T	XP_016864670.1:p.Pro3694Leu
XM_017009182.1:c.11081C>T	XP_016864671.1:p.Pro3694Leu
XM_017009185.1:c.6170C>T	XP_016864674.1:p.Pro2057Leu
XM_017009186.1:c.5723C>T	XP_016864675.1:p.Pro1908Leu
XM_017009188.1:c.5060C>T	XP_016864677.1:p.Pro1687Leu
XM_024454388.1:c.9986C>T	XP_024310156.1:p.Pro3329Leu
XM_024454389.1:c.9575C>T	XP_024310157.1:p.Pro3192Leu
NM_001369.3:c.10973C>T MANE Select	NP_001360.1:p.Pro3658Leu