Canonical Allele Identifier: CA359191812

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753533G>T (hg19) ; chr5:g.13753424G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10681C>A MANE Select	ENSP00000265104.4:p.Leu3561Ile
ENST00000681290.1:c.10636C>A	ENSP00000505288.1:p.Leu3546Ile
ENST00000265104.4:c.10681C>A	ENSP00000265104.4:p.Leu3561Ile
NM_001369.2:c.10681C>A	NP_001360.1:p.Leu3561Ile
XM_005248262.2:c.10636C>A	XP_005248319.1:p.Leu3546Ile
XM_005248262.3:c.10789C>A	XP_005248319.2:p.Leu3597Ile
XM_017009177.1:c.10789C>A	XP_016864666.1:p.Leu3597Ile
XM_017009178.1:c.9694C>A	XP_016864667.1:p.Leu3232Ile
XM_017009179.2:c.9694C>A	XP_016864668.1:p.Leu3232Ile
XM_017009180.1:c.10789C>A	XP_016864669.1:p.Leu3597Ile
XM_017009181.1:c.10789C>A	XP_016864670.1:p.Leu3597Ile
XM_017009182.1:c.10789C>A	XP_016864671.1:p.Leu3597Ile
XM_017009185.1:c.5878C>A	XP_016864674.1:p.Leu1960Ile
XM_017009186.1:c.5431C>A	XP_016864675.1:p.Leu1811Ile
XM_017009188.1:c.4768C>A	XP_016864677.1:p.Leu1590Ile
XM_024454388.1:c.9694C>A	XP_024310156.1:p.Leu3232Ile
XM_024454389.1:c.9283C>A	XP_024310157.1:p.Leu3095Ile
NM_001369.3:c.10681C>A MANE Select	NP_001360.1:p.Leu3561Ile