Canonical Allele Identifier: CA359202614

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13830777A>T (hg19) ; chr5:g.13830668A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13830668A>T , CM000667.2:g.13830668A>T	GRCh38
NC_000005.9:g.13830777A>T , CM000667.1:g.13830777A>T	GRCh37
NC_000005.8:g.13883777A>T	NCBI36
NG_013081.1:g.118813T>A
NG_013081.2:g.118813T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.921T>A
ENST00000265104.5:c.5990T>A MANE Select	ENSP00000265104.4:p.Leu1997His
ENST00000681290.1:c.5945T>A	ENSP00000505288.1:p.Leu1982His
ENST00000265104.4:c.5990T>A	ENSP00000265104.4:p.Leu1997His
NM_001369.2:c.5990T>A	NP_001360.1:p.Leu1997His
XM_005248262.2:c.5945T>A	XP_005248319.1:p.Leu1982His
XM_011513990.1:c.5990T>A	XP_011512292.1:p.Leu1997His
XR_925598.1:n.6197T>A
XM_005248262.3:c.6098T>A	XP_005248319.2:p.Leu2033His
XM_017009177.1:c.6098T>A	XP_016864666.1:p.Leu2033His
XM_017009178.1:c.5003T>A	XP_016864667.1:p.Leu1668His
XM_017009179.2:c.5003T>A	XP_016864668.1:p.Leu1668His
XM_017009180.1:c.6098T>A	XP_016864669.1:p.Leu2033His
XM_017009181.1:c.6098T>A	XP_016864670.1:p.Leu2033His
XM_017009182.1:c.6098T>A	XP_016864671.1:p.Leu2033His
XM_017009183.1:c.6098T>A	XP_016864672.1:p.Leu2033His
XM_017009184.1:c.6098T>A	XP_016864673.1:p.Leu2033His
XM_017009185.1:c.1187T>A	XP_016864674.1:p.Leu396His
XM_017009186.1:c.740T>A	XP_016864675.1:p.Leu247His
XM_017009187.1:c.6098T>A	XP_016864676.1:p.Leu2033His
XM_017009188.1:c.77T>A	XP_016864677.1:p.Leu26His
XM_024454388.1:c.5003T>A	XP_024310156.1:p.Leu1668His
XM_024454389.1:c.4592T>A	XP_024310157.1:p.Leu1531His
XR_001742034.1:n.6115T>A
XR_001742035.1:n.6115T>A
NM_001369.3:c.5990T>A MANE Select	NP_001360.1:p.Leu1997His