Canonical Allele Identifier: CA359188756

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692227A>T (hg19) ; chr5:g.13692118A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692118A>T , CM000667.2:g.13692118A>T	GRCh38
NC_000005.9:g.13692227A>T , CM000667.1:g.13692227A>T	GRCh37
NC_000005.8:g.13745227A>T	NCBI36
NG_013081.1:g.257363T>A
NG_013081.2:g.257363T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1074T>A
ENST00000265104.5:c.13741T>A MANE Select	ENSP00000265104.4:p.Phe4581Ile
ENST00000681290.1:c.13696T>A	ENSP00000505288.1:p.Phe4566Ile
ENST00000265104.4:c.13741T>A	ENSP00000265104.4:p.Phe4581Ile
NM_001369.2:c.13741T>A	NP_001360.1:p.Phe4581Ile
XM_005248262.2:c.13696T>A	XP_005248319.1:p.Phe4566Ile
XM_005248262.3:c.13849T>A	XP_005248319.2:p.Phe4617Ile
XM_017009177.1:c.13429T>A	XP_016864666.1:p.Phe4477Ile
XM_017009178.1:c.12754T>A	XP_016864667.1:p.Phe4252Ile
XM_017009179.2:c.12754T>A	XP_016864668.1:p.Phe4252Ile
XM_017009185.1:c.8938T>A	XP_016864674.1:p.Phe2980Ile
XM_017009186.1:c.8491T>A	XP_016864675.1:p.Phe2831Ile
XM_017009188.1:c.7828T>A	XP_016864677.1:p.Phe2610Ile
XM_024454388.1:c.12754T>A	XP_024310156.1:p.Phe4252Ile
XM_024454389.1:c.12343T>A	XP_024310157.1:p.Phe4115Ile
NM_001369.3:c.13741T>A MANE Select	NP_001360.1:p.Phe4581Ile