Canonical Allele Identifier: CA443248604

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692110G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692001G>A , CM000667.2:g.13692001G>A	GRCh38
NC_000005.9:g.13692110G>A , CM000667.1:g.13692110G>A	GRCh37
NC_000005.8:g.13745110G>A	NCBI36
NG_013081.1:g.257480C>T
NG_013081.2:g.257480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1191C>T
ENST00000265104.5:c.13858C>T MANE Select	ENSP00000265104.4:p.Leu4620=
ENST00000681290.1:c.13813C>T	ENSP00000505288.1:p.Leu4605=
ENST00000265104.4:c.13858C>T	ENSP00000265104.4:p.Leu4620=
NM_001369.2:c.13858C>T	NP_001360.1:p.Leu4620=
XM_005248262.2:c.13813C>T	XP_005248319.1:p.Leu4605=
XM_005248262.3:c.13966C>T	XP_005248319.2:p.Leu4656=
XM_017009177.1:c.13546C>T	XP_016864666.1:p.Leu4516=
XM_017009178.1:c.12871C>T	XP_016864667.1:p.Leu4291=
XM_017009179.2:c.12871C>T	XP_016864668.1:p.Leu4291=
XM_017009185.1:c.9055C>T	XP_016864674.1:p.Leu3019=
XM_017009186.1:c.8608C>T	XP_016864675.1:p.Leu2870=
XM_017009188.1:c.7945C>T	XP_016864677.1:p.Leu2649=
XM_024454388.1:c.12871C>T	XP_024310156.1:p.Leu4291=
XM_024454389.1:c.12460C>T	XP_024310157.1:p.Leu4154=
NM_001369.3:c.13858C>T MANE Select	NP_001360.1:p.Leu4620=