Canonical Allele Identifier: CA443535843

Gene: DNAH5

Linked Data

• dbSNP Id: rs1750534633
• MyVariant Identifiers: chr5:g.13753533G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753424G>A , CM000667.2:g.13753424G>A	GRCh38
NC_000005.9:g.13753533G>A , CM000667.1:g.13753533G>A	GRCh37
NC_000005.8:g.13806533G>A	NCBI36
NG_013081.1:g.196057C>T
NG_013081.2:g.196057C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10681C>T MANE Select	ENSP00000265104.4:p.Leu3561=
ENST00000681290.1:c.10636C>T	ENSP00000505288.1:p.Leu3546=
ENST00000265104.4:c.10681C>T	ENSP00000265104.4:p.Leu3561=
NM_001369.2:c.10681C>T	NP_001360.1:p.Leu3561=
XM_005248262.2:c.10636C>T	XP_005248319.1:p.Leu3546=
XM_005248262.3:c.10789C>T	XP_005248319.2:p.Leu3597=
XM_017009177.1:c.10789C>T	XP_016864666.1:p.Leu3597=
XM_017009178.1:c.9694C>T	XP_016864667.1:p.Leu3232=
XM_017009179.2:c.9694C>T	XP_016864668.1:p.Leu3232=
XM_017009180.1:c.10789C>T	XP_016864669.1:p.Leu3597=
XM_017009181.1:c.10789C>T	XP_016864670.1:p.Leu3597=
XM_017009182.1:c.10789C>T	XP_016864671.1:p.Leu3597=
XM_017009185.1:c.5878C>T	XP_016864674.1:p.Leu1960=
XM_017009186.1:c.5431C>T	XP_016864675.1:p.Leu1811=
XM_017009188.1:c.4768C>T	XP_016864677.1:p.Leu1590=
XM_024454388.1:c.9694C>T	XP_024310156.1:p.Leu3232=
XM_024454389.1:c.9283C>T	XP_024310157.1:p.Leu3095=
NM_001369.3:c.10681C>T MANE Select	NP_001360.1:p.Leu3561=