Canonical Allele Identifier: CA359188577

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692140C>T (hg19) ; chr5:g.13692031C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692031C>T , CM000667.2:g.13692031C>T	GRCh38
NC_000005.9:g.13692140C>T , CM000667.1:g.13692140C>T	GRCh37
NC_000005.8:g.13745140C>T	NCBI36
NG_013081.1:g.257450G>A
NG_013081.2:g.257450G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1161G>A
ENST00000265104.5:c.13828G>A MANE Select	ENSP00000265104.4:p.Glu4610Lys
ENST00000681290.1:c.13783G>A	ENSP00000505288.1:p.Glu4595Lys
ENST00000265104.4:c.13828G>A	ENSP00000265104.4:p.Glu4610Lys
NM_001369.2:c.13828G>A	NP_001360.1:p.Glu4610Lys
XM_005248262.2:c.13783G>A	XP_005248319.1:p.Glu4595Lys
XM_005248262.3:c.13936G>A	XP_005248319.2:p.Glu4646Lys
XM_017009177.1:c.13516G>A	XP_016864666.1:p.Glu4506Lys
XM_017009178.1:c.12841G>A	XP_016864667.1:p.Glu4281Lys
XM_017009179.2:c.12841G>A	XP_016864668.1:p.Glu4281Lys
XM_017009185.1:c.9025G>A	XP_016864674.1:p.Glu3009Lys
XM_017009186.1:c.8578G>A	XP_016864675.1:p.Glu2860Lys
XM_017009188.1:c.7915G>A	XP_016864677.1:p.Glu2639Lys
XM_024454388.1:c.12841G>A	XP_024310156.1:p.Glu4281Lys
XM_024454389.1:c.12430G>A	XP_024310157.1:p.Glu4144Lys
NM_001369.3:c.13828G>A MANE Select	NP_001360.1:p.Glu4610Lys