Canonical Allele Identifier: CA443253781

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13769129A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769020A>T , CM000667.2:g.13769020A>T	GRCh38
NC_000005.9:g.13769129A>T , CM000667.1:g.13769129A>T	GRCh37
NC_000005.8:g.13822129A>T	NCBI36
NG_013081.1:g.180461T>A
NG_013081.2:g.180461T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9837T>A MANE Select	ENSP00000265104.4:p.Ile3279=
ENST00000681290.1:c.9792T>A	ENSP00000505288.1:p.Ile3264=
ENST00000265104.4:c.9837T>A	ENSP00000265104.4:p.Ile3279=
ENST00000504001.3:n.549T>A
NM_001369.2:c.9837T>A	NP_001360.1:p.Ile3279=
XM_005248262.2:c.9792T>A	XP_005248319.1:p.Ile3264=
XM_005248262.3:c.9945T>A	XP_005248319.2:p.Ile3315=
XM_017009177.1:c.9945T>A	XP_016864666.1:p.Ile3315=
XM_017009178.1:c.8850T>A	XP_016864667.1:p.Ile2950=
XM_017009179.2:c.8850T>A	XP_016864668.1:p.Ile2950=
XM_017009180.1:c.9945T>A	XP_016864669.1:p.Ile3315=
XM_017009181.1:c.9945T>A	XP_016864670.1:p.Ile3315=
XM_017009182.1:c.9945T>A	XP_016864671.1:p.Ile3315=
XM_017009185.1:c.5034T>A	XP_016864674.1:p.Ile1678=
XM_017009186.1:c.4587T>A	XP_016864675.1:p.Ile1529=
XM_017009188.1:c.3924T>A	XP_016864677.1:p.Ile1308=
XM_024454388.1:c.8850T>A	XP_024310156.1:p.Ile2950=
XM_024454389.1:c.8439T>A	XP_024310157.1:p.Ile2813=
NM_001369.3:c.9837T>A MANE Select	NP_001360.1:p.Ile3279=