Canonical Allele Identifier: CA359199369

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13829630G>T (hg19) ; chr5:g.13829521G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829521G>T , CM000667.2:g.13829521G>T	GRCh38
NC_000005.9:g.13829630G>T , CM000667.1:g.13829630G>T	GRCh37
NC_000005.8:g.13882630G>T	NCBI36
NG_013081.1:g.119960C>A
NG_013081.2:g.119960C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1364C>A
ENST00000265104.5:c.6433C>A MANE Select	ENSP00000265104.4:p.Leu2145Ile
ENST00000681290.1:c.6388C>A	ENSP00000505288.1:p.Leu2130Ile
ENST00000265104.4:c.6433C>A	ENSP00000265104.4:p.Leu2145Ile
NM_001369.2:c.6433C>A	NP_001360.1:p.Leu2145Ile
XM_005248262.2:c.6388C>A	XP_005248319.1:p.Leu2130Ile
XM_011513990.1:c.6433C>A	XP_011512292.1:p.Leu2145Ile
XR_925598.1:n.6640C>A
XM_005248262.3:c.6541C>A	XP_005248319.2:p.Leu2181Ile
XM_017009177.1:c.6541C>A	XP_016864666.1:p.Leu2181Ile
XM_017009178.1:c.5446C>A	XP_016864667.1:p.Leu1816Ile
XM_017009179.2:c.5446C>A	XP_016864668.1:p.Leu1816Ile
XM_017009180.1:c.6541C>A	XP_016864669.1:p.Leu2181Ile
XM_017009181.1:c.6541C>A	XP_016864670.1:p.Leu2181Ile
XM_017009182.1:c.6541C>A	XP_016864671.1:p.Leu2181Ile
XM_017009183.1:c.6541C>A	XP_016864672.1:p.Leu2181Ile
XM_017009184.1:c.6541C>A	XP_016864673.1:p.Leu2181Ile
XM_017009185.1:c.1630C>A	XP_016864674.1:p.Leu544Ile
XM_017009186.1:c.1183C>A	XP_016864675.1:p.Leu395Ile
XM_017009187.1:c.6541C>A	XP_016864676.1:p.Leu2181Ile
XM_017009188.1:c.520C>A	XP_016864677.1:p.Leu174Ile
XM_024454388.1:c.5446C>A	XP_024310156.1:p.Leu1816Ile
XM_024454389.1:c.5035C>A	XP_024310157.1:p.Leu1679Ile
XR_001742034.1:n.6558C>A
XR_001742035.1:n.6558C>A
NM_001369.3:c.6433C>A MANE Select	NP_001360.1:p.Leu2145Ile