Canonical Allele Identifier: CA359190299

Gene: DNAH5

Linked Data

• COSMIC: COSM1742248
• MyVariant Identifiers: chr5:g.13752350G>T (hg19) ; chr5:g.13752241G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752241G>T , CM000667.2:g.13752241G>T	GRCh38
NC_000005.9:g.13752350G>T , CM000667.1:g.13752350G>T	GRCh37
NC_000005.8:g.13805350G>T	NCBI36
NG_013081.1:g.197240C>A
NG_013081.2:g.197240C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10921C>A MANE Select	ENSP00000265104.4:p.Leu3641Ile
ENST00000681290.1:c.10876C>A	ENSP00000505288.1:p.Leu3626Ile
ENST00000265104.4:c.10921C>A	ENSP00000265104.4:p.Leu3641Ile
NM_001369.2:c.10921C>A	NP_001360.1:p.Leu3641Ile
XM_005248262.2:c.10876C>A	XP_005248319.1:p.Leu3626Ile
XM_005248262.3:c.11029C>A	XP_005248319.2:p.Leu3677Ile
XM_017009177.1:c.11029C>A	XP_016864666.1:p.Leu3677Ile
XM_017009178.1:c.9934C>A	XP_016864667.1:p.Leu3312Ile
XM_017009179.2:c.9934C>A	XP_016864668.1:p.Leu3312Ile
XM_017009180.1:c.11029C>A	XP_016864669.1:p.Leu3677Ile
XM_017009181.1:c.11029C>A	XP_016864670.1:p.Leu3677Ile
XM_017009182.1:c.11029C>A	XP_016864671.1:p.Leu3677Ile
XM_017009185.1:c.6118C>A	XP_016864674.1:p.Leu2040Ile
XM_017009186.1:c.5671C>A	XP_016864675.1:p.Leu1891Ile
XM_017009188.1:c.5008C>A	XP_016864677.1:p.Leu1670Ile
XM_024454388.1:c.9934C>A	XP_024310156.1:p.Leu3312Ile
XM_024454389.1:c.9523C>A	XP_024310157.1:p.Leu3175Ile
NM_001369.3:c.10921C>A MANE Select	NP_001360.1:p.Leu3641Ile