Canonical Allele Identifier: CA359212866

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13781026C>A (hg19) ; chr5:g.13780917C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780917C>A , CM000667.2:g.13780917C>A	GRCh38
NC_000005.9:g.13781026C>A , CM000667.1:g.13781026C>A	GRCh37
NC_000005.8:g.13834026C>A	NCBI36
NG_013081.1:g.168564G>T
NG_013081.2:g.168564G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8863G>T MANE Select	ENSP00000265104.4:p.Val2955Phe
ENST00000681290.1:c.8818G>T	ENSP00000505288.1:p.Val2940Phe
ENST00000265104.4:c.8863G>T	ENSP00000265104.4:p.Val2955Phe
NM_001369.2:c.8863G>T	NP_001360.1:p.Val2955Phe
XM_005248262.2:c.8818G>T	XP_005248319.1:p.Val2940Phe
XM_011513990.1:c.8863G>T	XP_011512292.1:p.Val2955Phe
XR_925598.1:n.9028-3562G>T
XM_005248262.3:c.8971G>T	XP_005248319.2:p.Val2991Phe
XM_017009177.1:c.8971G>T	XP_016864666.1:p.Val2991Phe
XM_017009178.1:c.7876G>T	XP_016864667.1:p.Val2626Phe
XM_017009179.2:c.7876G>T	XP_016864668.1:p.Val2626Phe
XM_017009180.1:c.8971G>T	XP_016864669.1:p.Val2991Phe
XM_017009181.1:c.8971G>T	XP_016864670.1:p.Val2991Phe
XM_017009182.1:c.8971G>T	XP_016864671.1:p.Val2991Phe
XM_017009183.1:c.8971G>T	XP_016864672.1:p.Val2991Phe
XM_017009184.1:c.8971G>T	XP_016864673.1:p.Val2991Phe
XM_017009185.1:c.4060G>T	XP_016864674.1:p.Val1354Phe
XM_017009186.1:c.3613G>T	XP_016864675.1:p.Val1205Phe
XM_017009188.1:c.2950G>T	XP_016864677.1:p.Val984Phe
XM_024454388.1:c.7876G>T	XP_024310156.1:p.Val2626Phe
XM_024454389.1:c.7465G>T	XP_024310157.1:p.Val2489Phe
XR_001742034.1:n.8946-3562G>T
XR_001742035.1:n.8946-3562G>T
NM_001369.3:c.8863G>T MANE Select	NP_001360.1:p.Val2955Phe