Canonical Allele Identifier: CA443535614

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2080156
• ClinVar RCV Id: RCV002999078
• dbSNP Id: rs1488280893
• gnomAD v2: 5-13776687-G-A
• gnomAD v4: 5-13776578-G-A
• MyVariant Identifiers: chr5:g.13776687G>A (hg19) ; chr5:g.13776578G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776578G>A , CM000667.2:g.13776578G>A	GRCh38
NC_000005.9:g.13776687G>A , CM000667.1:g.13776687G>A	GRCh37
NC_000005.8:g.13829687G>A	NCBI36
NG_013081.1:g.172903C>T
NG_013081.2:g.172903C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9234C>T MANE Select	ENSP00000265104.4:p.Val3078=
ENST00000681290.1:c.9189C>T	ENSP00000505288.1:p.Val3063=
ENST00000265104.4:c.9234C>T	ENSP00000265104.4:p.Val3078=
NM_001369.2:c.9234C>T	NP_001360.1:p.Val3078=
XM_005248262.2:c.9189C>T	XP_005248319.1:p.Val3063=
XM_005248262.3:c.9342C>T	XP_005248319.2:p.Val3114=
XM_017009177.1:c.9342C>T	XP_016864666.1:p.Val3114=
XM_017009178.1:c.8247C>T	XP_016864667.1:p.Val2749=
XM_017009179.2:c.8247C>T	XP_016864668.1:p.Val2749=
XM_017009180.1:c.9342C>T	XP_016864669.1:p.Val3114=
XM_017009181.1:c.9342C>T	XP_016864670.1:p.Val3114=
XM_017009182.1:c.9342C>T	XP_016864671.1:p.Val3114=
XM_017009183.1:c.9342C>T	XP_016864672.1:p.Val3114=
XM_017009185.1:c.4431C>T	XP_016864674.1:p.Val1477=
XM_017009186.1:c.3984C>T	XP_016864675.1:p.Val1328=
XM_017009188.1:c.3321C>T	XP_016864677.1:p.Val1107=
XM_024454388.1:c.8247C>T	XP_024310156.1:p.Val2749=
XM_024454389.1:c.7836C>T	XP_024310157.1:p.Val2612=
NM_001369.3:c.9234C>T MANE Select	NP_001360.1:p.Val3078=