Canonical Allele Identifier: CA359212954

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13781055A>T (hg19) ; chr5:g.13780946A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780946A>T , CM000667.2:g.13780946A>T	GRCh38
NC_000005.9:g.13781055A>T , CM000667.1:g.13781055A>T	GRCh37
NC_000005.8:g.13834055A>T	NCBI36
NG_013081.1:g.168535T>A
NG_013081.2:g.168535T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8834T>A MANE Select	ENSP00000265104.4:p.Ile2945Asn
ENST00000681290.1:c.8789T>A	ENSP00000505288.1:p.Ile2930Asn
ENST00000265104.4:c.8834T>A	ENSP00000265104.4:p.Ile2945Asn
NM_001369.2:c.8834T>A	NP_001360.1:p.Ile2945Asn
XM_005248262.2:c.8789T>A	XP_005248319.1:p.Ile2930Asn
XM_011513990.1:c.8834T>A	XP_011512292.1:p.Ile2945Asn
XR_925598.1:n.9028-3591T>A
XM_005248262.3:c.8942T>A	XP_005248319.2:p.Ile2981Asn
XM_017009177.1:c.8942T>A	XP_016864666.1:p.Ile2981Asn
XM_017009178.1:c.7847T>A	XP_016864667.1:p.Ile2616Asn
XM_017009179.2:c.7847T>A	XP_016864668.1:p.Ile2616Asn
XM_017009180.1:c.8942T>A	XP_016864669.1:p.Ile2981Asn
XM_017009181.1:c.8942T>A	XP_016864670.1:p.Ile2981Asn
XM_017009182.1:c.8942T>A	XP_016864671.1:p.Ile2981Asn
XM_017009183.1:c.8942T>A	XP_016864672.1:p.Ile2981Asn
XM_017009184.1:c.8942T>A	XP_016864673.1:p.Ile2981Asn
XM_017009185.1:c.4031T>A	XP_016864674.1:p.Ile1344Asn
XM_017009186.1:c.3584T>A	XP_016864675.1:p.Ile1195Asn
XM_017009188.1:c.2921T>A	XP_016864677.1:p.Ile974Asn
XM_024454388.1:c.7847T>A	XP_024310156.1:p.Ile2616Asn
XM_024454389.1:c.7436T>A	XP_024310157.1:p.Ile2479Asn
XR_001742034.1:n.8946-3591T>A
XR_001742035.1:n.8946-3591T>A
NM_001369.3:c.8834T>A MANE Select	NP_001360.1:p.Ile2945Asn