Canonical Allele Identifier: CA359221170

Gene: DNAH5

Linked Data

• dbSNP Id: rs1465411505
• gnomAD v2: 5-13793677-A-T
• gnomAD v4: 5-13793568-A-T
• MyVariant Identifiers: chr5:g.13793677A>T (hg19) ; chr5:g.13793568A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793568A>T , CM000667.2:g.13793568A>T	GRCh38
NC_000005.9:g.13793677A>T , CM000667.1:g.13793677A>T	GRCh37
NC_000005.8:g.13846677A>T	NCBI36
NG_013081.1:g.155913T>A
NG_013081.2:g.155913T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8171T>A MANE Select	ENSP00000265104.4:p.Phe2724Tyr
ENST00000681290.1:c.8126T>A	ENSP00000505288.1:p.Phe2709Tyr
ENST00000265104.4:c.8171T>A	ENSP00000265104.4:p.Phe2724Tyr
NM_001369.2:c.8171T>A	NP_001360.1:p.Phe2724Tyr
XM_005248262.2:c.8126T>A	XP_005248319.1:p.Phe2709Tyr
XM_011513990.1:c.8171T>A	XP_011512292.1:p.Phe2724Tyr
XR_925598.1:n.8378T>A
XM_005248262.3:c.8279T>A	XP_005248319.2:p.Phe2760Tyr
XM_017009177.1:c.8279T>A	XP_016864666.1:p.Phe2760Tyr
XM_017009178.1:c.7184T>A	XP_016864667.1:p.Phe2395Tyr
XM_017009179.2:c.7184T>A	XP_016864668.1:p.Phe2395Tyr
XM_017009180.1:c.8279T>A	XP_016864669.1:p.Phe2760Tyr
XM_017009181.1:c.8279T>A	XP_016864670.1:p.Phe2760Tyr
XM_017009182.1:c.8279T>A	XP_016864671.1:p.Phe2760Tyr
XM_017009183.1:c.8279T>A	XP_016864672.1:p.Phe2760Tyr
XM_017009184.1:c.8279T>A	XP_016864673.1:p.Phe2760Tyr
XM_017009185.1:c.3368T>A	XP_016864674.1:p.Phe1123Tyr
XM_017009186.1:c.2921T>A	XP_016864675.1:p.Phe974Tyr
XM_017009188.1:c.2258T>A	XP_016864677.1:p.Phe753Tyr
XM_024454388.1:c.7184T>A	XP_024310156.1:p.Phe2395Tyr
XM_024454389.1:c.6773T>A	XP_024310157.1:p.Phe2258Tyr
XR_001742034.1:n.8296T>A
XR_001742035.1:n.8296T>A
NM_001369.3:c.8171T>A MANE Select	NP_001360.1:p.Phe2724Tyr