Canonical Allele Identifier: CA359209834

Gene: DNAH5

Linked Data

• dbSNP Id: rs1754142622
• gnomAD v4: 5-13776698-G-C
• MyVariant Identifiers: chr5:g.13776807G>C (hg19) ; chr5:g.13776698G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776698G>C , CM000667.2:g.13776698G>C	GRCh38
NC_000005.9:g.13776807G>C , CM000667.1:g.13776807G>C	GRCh37
NC_000005.8:g.13829807G>C	NCBI36
NG_013081.1:g.172783C>G
NG_013081.2:g.172783C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9114C>G MANE Select	ENSP00000265104.4:p.Asn3038Lys
ENST00000681290.1:c.9069C>G	ENSP00000505288.1:p.Asn3023Lys
ENST00000265104.4:c.9114C>G	ENSP00000265104.4:p.Asn3038Lys
NM_001369.2:c.9114C>G	NP_001360.1:p.Asn3038Lys
XM_005248262.2:c.9069C>G	XP_005248319.1:p.Asn3023Lys
XM_011513990.1:c.*1C>G	XP_011512292.1:n.*1C>G
XR_925598.1:n.9185C>G
XM_005248262.3:c.9222C>G	XP_005248319.2:p.Asn3074Lys
XM_017009177.1:c.9222C>G	XP_016864666.1:p.Asn3074Lys
XM_017009178.1:c.8127C>G	XP_016864667.1:p.Asn2709Lys
XM_017009179.2:c.8127C>G	XP_016864668.1:p.Asn2709Lys
XM_017009180.1:c.9222C>G	XP_016864669.1:p.Asn3074Lys
XM_017009181.1:c.9222C>G	XP_016864670.1:p.Asn3074Lys
XM_017009182.1:c.9222C>G	XP_016864671.1:p.Asn3074Lys
XM_017009183.1:c.9222C>G	XP_016864672.1:p.Asn3074Lys
XM_017009184.1:c.*1C>G	XP_016864673.1:n.*1C>G
XM_017009185.1:c.4311C>G	XP_016864674.1:p.Asn1437Lys
XM_017009186.1:c.3864C>G	XP_016864675.1:p.Asn1288Lys
XM_017009188.1:c.3201C>G	XP_016864677.1:p.Asn1067Lys
XM_024454388.1:c.8127C>G	XP_024310156.1:p.Asn2709Lys
XM_024454389.1:c.7716C>G	XP_024310157.1:p.Asn2572Lys
XR_001742034.1:n.9108C>G
XR_001742035.1:n.9103C>G
NM_001369.3:c.9114C>G MANE Select	NP_001360.1:p.Asn3038Lys