Canonical Allele Identifier: CA443535557

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753471C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753362C>T , CM000667.2:g.13753362C>T	GRCh38
NC_000005.9:g.13753471C>T , CM000667.1:g.13753471C>T	GRCh37
NC_000005.8:g.13806471C>T	NCBI36
NG_013081.1:g.196119G>A
NG_013081.2:g.196119G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10743G>A MANE Select	ENSP00000265104.4:p.Leu3581=
ENST00000681290.1:c.10698G>A	ENSP00000505288.1:p.Leu3566=
ENST00000265104.4:c.10743G>A	ENSP00000265104.4:p.Leu3581=
NM_001369.2:c.10743G>A	NP_001360.1:p.Leu3581=
XM_005248262.2:c.10698G>A	XP_005248319.1:p.Leu3566=
XM_005248262.3:c.10851G>A	XP_005248319.2:p.Leu3617=
XM_017009177.1:c.10851G>A	XP_016864666.1:p.Leu3617=
XM_017009178.1:c.9756G>A	XP_016864667.1:p.Leu3252=
XM_017009179.2:c.9756G>A	XP_016864668.1:p.Leu3252=
XM_017009180.1:c.10851G>A	XP_016864669.1:p.Leu3617=
XM_017009181.1:c.10851G>A	XP_016864670.1:p.Leu3617=
XM_017009182.1:c.10851G>A	XP_016864671.1:p.Leu3617=
XM_017009185.1:c.5940G>A	XP_016864674.1:p.Leu1980=
XM_017009186.1:c.5493G>A	XP_016864675.1:p.Leu1831=
XM_017009188.1:c.4830G>A	XP_016864677.1:p.Leu1610=
XM_024454388.1:c.9756G>A	XP_024310156.1:p.Leu3252=
XM_024454389.1:c.9345G>A	XP_024310157.1:p.Leu3115=
NM_001369.3:c.10743G>A MANE Select	NP_001360.1:p.Leu3581=