Canonical Allele Identifier: CA443260290

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13735959C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735850C>T , CM000667.2:g.13735850C>T	GRCh38
NC_000005.9:g.13735959C>T , CM000667.1:g.13735959C>T	GRCh37
NC_000005.8:g.13788959C>T	NCBI36
NG_013081.1:g.213631G>A
NG_013081.2:g.213631G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11538G>A MANE Select	ENSP00000265104.4:p.Gln3846=
ENST00000681290.1:c.11493G>A	ENSP00000505288.1:p.Gln3831=
ENST00000265104.4:c.11538G>A	ENSP00000265104.4:p.Gln3846=
NM_001369.2:c.11538G>A	NP_001360.1:p.Gln3846=
XM_005248262.2:c.11493G>A	XP_005248319.1:p.Gln3831=
XM_005248262.3:c.11646G>A	XP_005248319.2:p.Gln3882=
XM_017009177.1:c.11646G>A	XP_016864666.1:p.Gln3882=
XM_017009178.1:c.10551G>A	XP_016864667.1:p.Gln3517=
XM_017009179.2:c.10551G>A	XP_016864668.1:p.Gln3517=
XM_017009180.1:c.11646G>A	XP_016864669.1:p.Gln3882=
XM_017009181.1:c.11646G>A	XP_016864670.1:p.Gln3882=
XM_017009182.1:c.11402G>A	XP_016864671.1:p.Ser3801Asn
XM_017009185.1:c.6735G>A	XP_016864674.1:p.Gln2245=
XM_017009186.1:c.6288G>A	XP_016864675.1:p.Gln2096=
XM_017009188.1:c.5625G>A	XP_016864677.1:p.Gln1875=
XM_024454388.1:c.10551G>A	XP_024310156.1:p.Gln3517=
XM_024454389.1:c.10140G>A	XP_024310157.1:p.Gln3380=
NM_001369.3:c.11538G>A MANE Select	NP_001360.1:p.Gln3846=