Canonical Allele Identifier: CA359188570

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692138T>A (hg19) ; chr5:g.13692029T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692029T>A , CM000667.2:g.13692029T>A	GRCh38
NC_000005.9:g.13692138T>A , CM000667.1:g.13692138T>A	GRCh37
NC_000005.8:g.13745138T>A	NCBI36
NG_013081.1:g.257452A>T
NG_013081.2:g.257452A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1163A>T
ENST00000265104.5:c.13830A>T MANE Select	ENSP00000265104.4:p.Glu4610Asp
ENST00000681290.1:c.13785A>T	ENSP00000505288.1:p.Glu4595Asp
ENST00000265104.4:c.13830A>T	ENSP00000265104.4:p.Glu4610Asp
NM_001369.2:c.13830A>T	NP_001360.1:p.Glu4610Asp
XM_005248262.2:c.13785A>T	XP_005248319.1:p.Glu4595Asp
XM_005248262.3:c.13938A>T	XP_005248319.2:p.Glu4646Asp
XM_017009177.1:c.13518A>T	XP_016864666.1:p.Glu4506Asp
XM_017009178.1:c.12843A>T	XP_016864667.1:p.Glu4281Asp
XM_017009179.2:c.12843A>T	XP_016864668.1:p.Glu4281Asp
XM_017009185.1:c.9027A>T	XP_016864674.1:p.Glu3009Asp
XM_017009186.1:c.8580A>T	XP_016864675.1:p.Glu2860Asp
XM_017009188.1:c.7917A>T	XP_016864677.1:p.Glu2639Asp
XM_024454388.1:c.12843A>T	XP_024310156.1:p.Glu4281Asp
XM_024454389.1:c.12432A>T	XP_024310157.1:p.Glu4144Asp
NM_001369.3:c.13830A>T MANE Select	NP_001360.1:p.Glu4610Asp