Canonical Allele Identifier: CA443259322

Gene: DNAH5

Linked Data

• dbSNP Id: rs771977539
• gnomAD v2: 5-13781015-G-T
• MyVariant Identifiers: chr5:g.13781015G>T (hg19) ; chr5:g.13780906G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780906G>T , CM000667.2:g.13780906G>T	GRCh38
NC_000005.9:g.13781015G>T , CM000667.1:g.13781015G>T	GRCh37
NC_000005.8:g.13834015G>T	NCBI36
NG_013081.1:g.168575C>A
NG_013081.2:g.168575C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8874C>A MANE Select	ENSP00000265104.4:p.Gly2958=
ENST00000681290.1:c.8829C>A	ENSP00000505288.1:p.Gly2943=
ENST00000265104.4:c.8874C>A	ENSP00000265104.4:p.Gly2958=
NM_001369.2:c.8874C>A	NP_001360.1:p.Gly2958=
XM_005248262.2:c.8829C>A	XP_005248319.1:p.Gly2943=
XM_011513990.1:c.8874C>A	XP_011512292.1:p.Gly2958=
XR_925598.1:n.9028-3551C>A
XM_005248262.3:c.8982C>A	XP_005248319.2:p.Gly2994=
XM_017009177.1:c.8982C>A	XP_016864666.1:p.Gly2994=
XM_017009178.1:c.7887C>A	XP_016864667.1:p.Gly2629=
XM_017009179.2:c.7887C>A	XP_016864668.1:p.Gly2629=
XM_017009180.1:c.8982C>A	XP_016864669.1:p.Gly2994=
XM_017009181.1:c.8982C>A	XP_016864670.1:p.Gly2994=
XM_017009182.1:c.8982C>A	XP_016864671.1:p.Gly2994=
XM_017009183.1:c.8982C>A	XP_016864672.1:p.Gly2994=
XM_017009184.1:c.8982C>A	XP_016864673.1:p.Gly2994=
XM_017009185.1:c.4071C>A	XP_016864674.1:p.Gly1357=
XM_017009186.1:c.3624C>A	XP_016864675.1:p.Gly1208=
XM_017009188.1:c.2961C>A	XP_016864677.1:p.Gly987=
XM_024454388.1:c.7887C>A	XP_024310156.1:p.Gly2629=
XM_024454389.1:c.7476C>A	XP_024310157.1:p.Gly2492=
XR_001742034.1:n.8946-3551C>A
XR_001742035.1:n.8946-3551C>A
NM_001369.3:c.8874C>A MANE Select	NP_001360.1:p.Gly2958=