Canonical Allele Identifier: CA443248623

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692123A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692014A>T , CM000667.2:g.13692014A>T	GRCh38
NC_000005.9:g.13692123A>T , CM000667.1:g.13692123A>T	GRCh37
NC_000005.8:g.13745123A>T	NCBI36
NG_013081.1:g.257467T>A
NG_013081.2:g.257467T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1178T>A
ENST00000265104.5:c.13845T>A MANE Select	ENSP00000265104.4:p.Arg4615=
ENST00000681290.1:c.13800T>A	ENSP00000505288.1:p.Arg4600=
ENST00000265104.4:c.13845T>A	ENSP00000265104.4:p.Arg4615=
NM_001369.2:c.13845T>A	NP_001360.1:p.Arg4615=
XM_005248262.2:c.13800T>A	XP_005248319.1:p.Arg4600=
XM_005248262.3:c.13953T>A	XP_005248319.2:p.Arg4651=
XM_017009177.1:c.13533T>A	XP_016864666.1:p.Arg4511=
XM_017009178.1:c.12858T>A	XP_016864667.1:p.Arg4286=
XM_017009179.2:c.12858T>A	XP_016864668.1:p.Arg4286=
XM_017009185.1:c.9042T>A	XP_016864674.1:p.Arg3014=
XM_017009186.1:c.8595T>A	XP_016864675.1:p.Arg2865=
XM_017009188.1:c.7932T>A	XP_016864677.1:p.Arg2644=
XM_024454388.1:c.12858T>A	XP_024310156.1:p.Arg4286=
XM_024454389.1:c.12447T>A	XP_024310157.1:p.Arg4149=
NM_001369.3:c.13845T>A MANE Select	NP_001360.1:p.Arg4615=