Canonical Allele Identifier: CA443251285

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2825448
• ClinVar RCV Id: RCV003651055
• gnomAD v4: 5-13708240-G-A
• MyVariant Identifiers: chr5:g.13708349G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708240G>A , CM000667.2:g.13708240G>A	GRCh38
NC_000005.9:g.13708349G>A , CM000667.1:g.13708349G>A	GRCh37
NC_000005.8:g.13761349G>A	NCBI36
NG_013081.1:g.241241C>T
NG_013081.2:g.241241C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.554C>T
ENST00000265104.5:c.13221C>T MANE Select	ENSP00000265104.4:p.Val4407=
ENST00000681290.1:c.13176C>T	ENSP00000505288.1:p.Val4392=
ENST00000265104.4:c.13221C>T	ENSP00000265104.4:p.Val4407=
NM_001369.2:c.13221C>T	NP_001360.1:p.Val4407=
XM_005248262.2:c.13176C>T	XP_005248319.1:p.Val4392=
XM_005248262.3:c.13329C>T	XP_005248319.2:p.Val4443=
XM_017009177.1:c.12909C>T	XP_016864666.1:p.Val4303=
XM_017009178.1:c.12234C>T	XP_016864667.1:p.Val4078=
XM_017009179.2:c.12234C>T	XP_016864668.1:p.Val4078=
XM_017009185.1:c.8418C>T	XP_016864674.1:p.Val2806=
XM_017009186.1:c.7971C>T	XP_016864675.1:p.Val2657=
XM_017009188.1:c.7308C>T	XP_016864677.1:p.Val2436=
XM_024454388.1:c.12234C>T	XP_024310156.1:p.Val4078=
XM_024454389.1:c.11823C>T	XP_024310157.1:p.Val3941=
NM_001369.3:c.13221C>T MANE Select	NP_001360.1:p.Val4407=