Canonical Allele Identifier: CA359188750

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692225A>T (hg19) ; chr5:g.13692116A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692116A>T , CM000667.2:g.13692116A>T	GRCh38
NC_000005.9:g.13692225A>T , CM000667.1:g.13692225A>T	GRCh37
NC_000005.8:g.13745225A>T	NCBI36
NG_013081.1:g.257365T>A
NG_013081.2:g.257365T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1076T>A
ENST00000265104.5:c.13743T>A MANE Select	ENSP00000265104.4:p.Phe4581Leu
ENST00000681290.1:c.13698T>A	ENSP00000505288.1:p.Phe4566Leu
ENST00000265104.4:c.13743T>A	ENSP00000265104.4:p.Phe4581Leu
NM_001369.2:c.13743T>A	NP_001360.1:p.Phe4581Leu
XM_005248262.2:c.13698T>A	XP_005248319.1:p.Phe4566Leu
XM_005248262.3:c.13851T>A	XP_005248319.2:p.Phe4617Leu
XM_017009177.1:c.13431T>A	XP_016864666.1:p.Phe4477Leu
XM_017009178.1:c.12756T>A	XP_016864667.1:p.Phe4252Leu
XM_017009179.2:c.12756T>A	XP_016864668.1:p.Phe4252Leu
XM_017009185.1:c.8940T>A	XP_016864674.1:p.Phe2980Leu
XM_017009186.1:c.8493T>A	XP_016864675.1:p.Phe2831Leu
XM_017009188.1:c.7830T>A	XP_016864677.1:p.Phe2610Leu
XM_024454388.1:c.12756T>A	XP_024310156.1:p.Phe4252Leu
XM_024454389.1:c.12345T>A	XP_024310157.1:p.Phe4115Leu
NM_001369.3:c.13743T>A MANE Select	NP_001360.1:p.Phe4581Leu