Canonical Allele Identifier: CA443535960

Gene: DNAH5

Linked Data

• COSMIC: COSM1310570
• MyVariant Identifiers: chr5:g.13753590G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753481G>A , CM000667.2:g.13753481G>A	GRCh38
NC_000005.9:g.13753590G>A , CM000667.1:g.13753590G>A	GRCh37
NC_000005.8:g.13806590G>A	NCBI36
NG_013081.1:g.196000C>T
NG_013081.2:g.196000C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10624C>T MANE Select	ENSP00000265104.4:p.Leu3542=
ENST00000681290.1:c.10579C>T	ENSP00000505288.1:p.Leu3527=
ENST00000265104.4:c.10624C>T	ENSP00000265104.4:p.Leu3542=
NM_001369.2:c.10624C>T	NP_001360.1:p.Leu3542=
XM_005248262.2:c.10579C>T	XP_005248319.1:p.Leu3527=
XM_005248262.3:c.10732C>T	XP_005248319.2:p.Leu3578=
XM_017009177.1:c.10732C>T	XP_016864666.1:p.Leu3578=
XM_017009178.1:c.9637C>T	XP_016864667.1:p.Leu3213=
XM_017009179.2:c.9637C>T	XP_016864668.1:p.Leu3213=
XM_017009180.1:c.10732C>T	XP_016864669.1:p.Leu3578=
XM_017009181.1:c.10732C>T	XP_016864670.1:p.Leu3578=
XM_017009182.1:c.10732C>T	XP_016864671.1:p.Leu3578=
XM_017009185.1:c.5821C>T	XP_016864674.1:p.Leu1941=
XM_017009186.1:c.5374C>T	XP_016864675.1:p.Leu1792=
XM_017009188.1:c.4711C>T	XP_016864677.1:p.Leu1571=
XM_024454388.1:c.9637C>T	XP_024310156.1:p.Leu3213=
XM_024454389.1:c.9226C>T	XP_024310157.1:p.Leu3076=
NM_001369.3:c.10624C>T MANE Select	NP_001360.1:p.Leu3542=