Canonical Allele Identifier: CA443263390

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1459495
• ClinVar RCV Id: RCV001963098
• dbSNP Id: rs2126899765
• MyVariant Identifiers: chr5:g.13792142T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792033T>C , CM000667.2:g.13792033T>C	GRCh38
NC_000005.9:g.13792142T>C , CM000667.1:g.13792142T>C	GRCh37
NC_000005.8:g.13845142T>C	NCBI36
NG_013081.1:g.157448A>G
NG_013081.2:g.157448A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8409A>G MANE Select	ENSP00000265104.4:p.Gly2803=
ENST00000681290.1:c.8364A>G	ENSP00000505288.1:p.Gly2788=
ENST00000265104.4:c.8409A>G	ENSP00000265104.4:p.Gly2803=
NM_001369.2:c.8409A>G	NP_001360.1:p.Gly2803=
XM_005248262.2:c.8364A>G	XP_005248319.1:p.Gly2788=
XM_011513990.1:c.8409A>G	XP_011512292.1:p.Gly2803=
XR_925598.1:n.8616A>G
XM_005248262.3:c.8517A>G	XP_005248319.2:p.Gly2839=
XM_017009177.1:c.8517A>G	XP_016864666.1:p.Gly2839=
XM_017009178.1:c.7422A>G	XP_016864667.1:p.Gly2474=
XM_017009179.2:c.7422A>G	XP_016864668.1:p.Gly2474=
XM_017009180.1:c.8517A>G	XP_016864669.1:p.Gly2839=
XM_017009181.1:c.8517A>G	XP_016864670.1:p.Gly2839=
XM_017009182.1:c.8517A>G	XP_016864671.1:p.Gly2839=
XM_017009183.1:c.8517A>G	XP_016864672.1:p.Gly2839=
XM_017009184.1:c.8517A>G	XP_016864673.1:p.Gly2839=
XM_017009185.1:c.3606A>G	XP_016864674.1:p.Gly1202=
XM_017009186.1:c.3159A>G	XP_016864675.1:p.Gly1053=
XM_017009188.1:c.2496A>G	XP_016864677.1:p.Gly832=
XM_024454388.1:c.7422A>G	XP_024310156.1:p.Gly2474=
XM_024454389.1:c.7011A>G	XP_024310157.1:p.Gly2337=
XR_001742034.1:n.8534A>G
XR_001742035.1:n.8534A>G
NM_001369.3:c.8409A>G MANE Select	NP_001360.1:p.Gly2803=