Canonical Allele Identifier: CA3202599

Gene: DNAH5

Linked Data

• dbSNP Id: rs778297153
• ExAC: 5:13776768 G / T
• gnomAD v2: 5-13776768-G-T
• gnomAD v4: 5-13776659-G-T
• MyVariant Identifiers: chr5:g.13776768G>T (hg19) ; chr5:g.13776659G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776659G>T , CM000667.2:g.13776659G>T	GRCh38
NC_000005.9:g.13776768G>T , CM000667.1:g.13776768G>T	GRCh37
NC_000005.8:g.13829768G>T	NCBI36
NG_013081.1:g.172822C>A
NG_013081.2:g.172822C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9153C>A MANE Select	ENSP00000265104.4:p.Asp3051Glu
ENST00000681290.1:c.9108C>A	ENSP00000505288.1:p.Asp3036Glu
ENST00000265104.4:c.9153C>A	ENSP00000265104.4:p.Asp3051Glu
NM_001369.2:c.9153C>A	NP_001360.1:p.Asp3051Glu
XM_005248262.2:c.9108C>A	XP_005248319.1:p.Asp3036Glu
XM_011513990.1:c.*40C>A	XP_011512292.1:n.*40C>A
XR_925598.1:n.9224C>A
XM_005248262.3:c.9261C>A	XP_005248319.2:p.Asp3087Glu
XM_017009177.1:c.9261C>A	XP_016864666.1:p.Asp3087Glu
XM_017009178.1:c.8166C>A	XP_016864667.1:p.Asp2722Glu
XM_017009179.2:c.8166C>A	XP_016864668.1:p.Asp2722Glu
XM_017009180.1:c.9261C>A	XP_016864669.1:p.Asp3087Glu
XM_017009181.1:c.9261C>A	XP_016864670.1:p.Asp3087Glu
XM_017009182.1:c.9261C>A	XP_016864671.1:p.Asp3087Glu
XM_017009183.1:c.9261C>A	XP_016864672.1:p.Asp3087Glu
XM_017009184.1:c.*40C>A	XP_016864673.1:n.*40C>A
XM_017009185.1:c.4350C>A	XP_016864674.1:p.Asp1450Glu
XM_017009186.1:c.3903C>A	XP_016864675.1:p.Asp1301Glu
XM_017009188.1:c.3240C>A	XP_016864677.1:p.Asp1080Glu
XM_024454388.1:c.8166C>A	XP_024310156.1:p.Asp2722Glu
XM_024454389.1:c.7755C>A	XP_024310157.1:p.Asp2585Glu
XR_001742034.1:n.9147C>A
XR_001742035.1:n.9142C>A
NM_001369.3:c.9153C>A MANE Select	NP_001360.1:p.Asp3051Glu