Canonical Allele Identifier: CA359209839

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13776808T>A (hg19) ; chr5:g.13776699T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776699T>A , CM000667.2:g.13776699T>A	GRCh38
NC_000005.9:g.13776808T>A , CM000667.1:g.13776808T>A	GRCh37
NC_000005.8:g.13829808T>A	NCBI36
NG_013081.1:g.172782A>T
NG_013081.2:g.172782A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9113A>T MANE Select	ENSP00000265104.4:p.Asn3038Ile
ENST00000681290.1:c.9068A>T	ENSP00000505288.1:p.Asn3023Ile
ENST00000265104.4:c.9113A>T	ENSP00000265104.4:p.Asn3038Ile
NM_001369.2:c.9113A>T	NP_001360.1:p.Asn3038Ile
XM_005248262.2:c.9068A>T	XP_005248319.1:p.Asn3023Ile
XM_011513990.1:c.9108A>T	XP_011512292.1:p.Ter3036Tyr
XR_925598.1:n.9184A>T
XM_005248262.3:c.9221A>T	XP_005248319.2:p.Asn3074Ile
XM_017009177.1:c.9221A>T	XP_016864666.1:p.Asn3074Ile
XM_017009178.1:c.8126A>T	XP_016864667.1:p.Asn2709Ile
XM_017009179.2:c.8126A>T	XP_016864668.1:p.Asn2709Ile
XM_017009180.1:c.9221A>T	XP_016864669.1:p.Asn3074Ile
XM_017009181.1:c.9221A>T	XP_016864670.1:p.Asn3074Ile
XM_017009182.1:c.9221A>T	XP_016864671.1:p.Asn3074Ile
XM_017009183.1:c.9221A>T	XP_016864672.1:p.Asn3074Ile
XM_017009184.1:c.9216A>T	XP_016864673.1:p.Ter3072Tyr
XM_017009185.1:c.4310A>T	XP_016864674.1:p.Asn1437Ile
XM_017009186.1:c.3863A>T	XP_016864675.1:p.Asn1288Ile
XM_017009188.1:c.3200A>T	XP_016864677.1:p.Asn1067Ile
XM_024454388.1:c.8126A>T	XP_024310156.1:p.Asn2709Ile
XM_024454389.1:c.7715A>T	XP_024310157.1:p.Asn2572Ile
XR_001742034.1:n.9107A>T
XR_001742035.1:n.9102A>T
NM_001369.3:c.9113A>T MANE Select	NP_001360.1:p.Asn3038Ile