Canonical Allele Identifier: CA443263425

Gene: DNAH5

Linked Data

• COSMIC: COSM3609033
• MyVariant Identifiers: chr5:g.13792187G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792078G>A , CM000667.2:g.13792078G>A	GRCh38
NC_000005.9:g.13792187G>A , CM000667.1:g.13792187G>A	GRCh37
NC_000005.8:g.13845187G>A	NCBI36
NG_013081.1:g.157403C>T
NG_013081.2:g.157403C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8364C>T MANE Select	ENSP00000265104.4:p.Phe2788=
ENST00000681290.1:c.8319C>T	ENSP00000505288.1:p.Phe2773=
ENST00000265104.4:c.8364C>T	ENSP00000265104.4:p.Phe2788=
NM_001369.2:c.8364C>T	NP_001360.1:p.Phe2788=
XM_005248262.2:c.8319C>T	XP_005248319.1:p.Phe2773=
XM_011513990.1:c.8364C>T	XP_011512292.1:p.Phe2788=
XR_925598.1:n.8571C>T
XM_005248262.3:c.8472C>T	XP_005248319.2:p.Phe2824=
XM_017009177.1:c.8472C>T	XP_016864666.1:p.Phe2824=
XM_017009178.1:c.7377C>T	XP_016864667.1:p.Phe2459=
XM_017009179.2:c.7377C>T	XP_016864668.1:p.Phe2459=
XM_017009180.1:c.8472C>T	XP_016864669.1:p.Phe2824=
XM_017009181.1:c.8472C>T	XP_016864670.1:p.Phe2824=
XM_017009182.1:c.8472C>T	XP_016864671.1:p.Phe2824=
XM_017009183.1:c.8472C>T	XP_016864672.1:p.Phe2824=
XM_017009184.1:c.8472C>T	XP_016864673.1:p.Phe2824=
XM_017009185.1:c.3561C>T	XP_016864674.1:p.Phe1187=
XM_017009186.1:c.3114C>T	XP_016864675.1:p.Phe1038=
XM_017009188.1:c.2451C>T	XP_016864677.1:p.Phe817=
XM_024454388.1:c.7377C>T	XP_024310156.1:p.Phe2459=
XM_024454389.1:c.6966C>T	XP_024310157.1:p.Phe2322=
XR_001742034.1:n.8489C>T
XR_001742035.1:n.8489C>T
NM_001369.3:c.8364C>T MANE Select	NP_001360.1:p.Phe2788=