Canonical Allele Identifier: CA359202489

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13769240T>A (hg19) ; chr5:g.13769131T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769131T>A , CM000667.2:g.13769131T>A	GRCh38
NC_000005.9:g.13769240T>A , CM000667.1:g.13769240T>A	GRCh37
NC_000005.8:g.13822240T>A	NCBI36
NG_013081.1:g.180350A>T
NG_013081.2:g.180350A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9726A>T MANE Select	ENSP00000265104.4:p.Leu3242Phe
ENST00000681290.1:c.9681A>T	ENSP00000505288.1:p.Leu3227Phe
ENST00000265104.4:c.9726A>T	ENSP00000265104.4:p.Leu3242Phe
ENST00000504001.3:n.438A>T
NM_001369.2:c.9726A>T	NP_001360.1:p.Leu3242Phe
XM_005248262.2:c.9681A>T	XP_005248319.1:p.Leu3227Phe
XM_005248262.3:c.9834A>T	XP_005248319.2:p.Leu3278Phe
XM_017009177.1:c.9834A>T	XP_016864666.1:p.Leu3278Phe
XM_017009178.1:c.8739A>T	XP_016864667.1:p.Leu2913Phe
XM_017009179.2:c.8739A>T	XP_016864668.1:p.Leu2913Phe
XM_017009180.1:c.9834A>T	XP_016864669.1:p.Leu3278Phe
XM_017009181.1:c.9834A>T	XP_016864670.1:p.Leu3278Phe
XM_017009182.1:c.9834A>T	XP_016864671.1:p.Leu3278Phe
XM_017009185.1:c.4923A>T	XP_016864674.1:p.Leu1641Phe
XM_017009186.1:c.4476A>T	XP_016864675.1:p.Leu1492Phe
XM_017009188.1:c.3813A>T	XP_016864677.1:p.Leu1271Phe
XM_024454388.1:c.8739A>T	XP_024310156.1:p.Leu2913Phe
XM_024454389.1:c.8328A>T	XP_024310157.1:p.Leu2776Phe
NM_001369.3:c.9726A>T MANE Select	NP_001360.1:p.Leu3242Phe