Canonical Allele Identifier: CA359192314

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753646A>T (hg19) ; chr5:g.13753537A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753537A>T , CM000667.2:g.13753537A>T	GRCh38
NC_000005.9:g.13753646A>T , CM000667.1:g.13753646A>T	GRCh37
NC_000005.8:g.13806646A>T	NCBI36
NG_013081.1:g.195944T>A
NG_013081.2:g.195944T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10568T>A MANE Select	ENSP00000265104.4:p.Leu3523Ter
ENST00000681290.1:c.10523T>A	ENSP00000505288.1:p.Leu3508Ter
ENST00000265104.4:c.10568T>A	ENSP00000265104.4:p.Leu3523Ter
NM_001369.2:c.10568T>A	NP_001360.1:p.Leu3523Ter
XM_005248262.2:c.10523T>A	XP_005248319.1:p.Leu3508Ter
XM_005248262.3:c.10676T>A	XP_005248319.2:p.Leu3559Ter
XM_017009177.1:c.10676T>A	XP_016864666.1:p.Leu3559Ter
XM_017009178.1:c.9581T>A	XP_016864667.1:p.Leu3194Ter
XM_017009179.2:c.9581T>A	XP_016864668.1:p.Leu3194Ter
XM_017009180.1:c.10676T>A	XP_016864669.1:p.Leu3559Ter
XM_017009181.1:c.10676T>A	XP_016864670.1:p.Leu3559Ter
XM_017009182.1:c.10676T>A	XP_016864671.1:p.Leu3559Ter
XM_017009185.1:c.5765T>A	XP_016864674.1:p.Leu1922Ter
XM_017009186.1:c.5318T>A	XP_016864675.1:p.Leu1773Ter
XM_017009188.1:c.4655T>A	XP_016864677.1:p.Leu1552Ter
XM_024454388.1:c.9581T>A	XP_024310156.1:p.Leu3194Ter
XM_024454389.1:c.9170T>A	XP_024310157.1:p.Leu3057Ter
NM_001369.3:c.10568T>A MANE Select	NP_001360.1:p.Leu3523Ter