Canonical Allele Identifier: CA443265925

Gene: DNAH5

Linked Data

• COSMIC: COSM3918713
• MyVariant Identifiers: chr5:g.13793685C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793576C>T , CM000667.2:g.13793576C>T	GRCh38
NC_000005.9:g.13793685C>T , CM000667.1:g.13793685C>T	GRCh37
NC_000005.8:g.13846685C>T	NCBI36
NG_013081.1:g.155905G>A
NG_013081.2:g.155905G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8163G>A MANE Select	ENSP00000265104.4:p.Lys2721=
ENST00000681290.1:c.8118G>A	ENSP00000505288.1:p.Lys2706=
ENST00000265104.4:c.8163G>A	ENSP00000265104.4:p.Lys2721=
NM_001369.2:c.8163G>A	NP_001360.1:p.Lys2721=
XM_005248262.2:c.8118G>A	XP_005248319.1:p.Lys2706=
XM_011513990.1:c.8163G>A	XP_011512292.1:p.Lys2721=
XR_925598.1:n.8370G>A
XM_005248262.3:c.8271G>A	XP_005248319.2:p.Lys2757=
XM_017009177.1:c.8271G>A	XP_016864666.1:p.Lys2757=
XM_017009178.1:c.7176G>A	XP_016864667.1:p.Lys2392=
XM_017009179.2:c.7176G>A	XP_016864668.1:p.Lys2392=
XM_017009180.1:c.8271G>A	XP_016864669.1:p.Lys2757=
XM_017009181.1:c.8271G>A	XP_016864670.1:p.Lys2757=
XM_017009182.1:c.8271G>A	XP_016864671.1:p.Lys2757=
XM_017009183.1:c.8271G>A	XP_016864672.1:p.Lys2757=
XM_017009184.1:c.8271G>A	XP_016864673.1:p.Lys2757=
XM_017009185.1:c.3360G>A	XP_016864674.1:p.Lys1120=
XM_017009186.1:c.2913G>A	XP_016864675.1:p.Lys971=
XM_017009188.1:c.2250G>A	XP_016864677.1:p.Lys750=
XM_024454388.1:c.7176G>A	XP_024310156.1:p.Lys2392=
XM_024454389.1:c.6765G>A	XP_024310157.1:p.Lys2255=
XR_001742034.1:n.8288G>A
XR_001742035.1:n.8288G>A
NM_001369.3:c.8163G>A MANE Select	NP_001360.1:p.Lys2721=