Canonical Allele Identifier: CA359191551

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753489T>A (hg19) ; chr5:g.13753380T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753380T>A , CM000667.2:g.13753380T>A	GRCh38
NC_000005.9:g.13753489T>A , CM000667.1:g.13753489T>A	GRCh37
NC_000005.8:g.13806489T>A	NCBI36
NG_013081.1:g.196101A>T
NG_013081.2:g.196101A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10725A>T MANE Select	ENSP00000265104.4:p.Glu3575Asp
ENST00000681290.1:c.10680A>T	ENSP00000505288.1:p.Glu3560Asp
ENST00000265104.4:c.10725A>T	ENSP00000265104.4:p.Glu3575Asp
NM_001369.2:c.10725A>T	NP_001360.1:p.Glu3575Asp
XM_005248262.2:c.10680A>T	XP_005248319.1:p.Glu3560Asp
XM_005248262.3:c.10833A>T	XP_005248319.2:p.Glu3611Asp
XM_017009177.1:c.10833A>T	XP_016864666.1:p.Glu3611Asp
XM_017009178.1:c.9738A>T	XP_016864667.1:p.Glu3246Asp
XM_017009179.2:c.9738A>T	XP_016864668.1:p.Glu3246Asp
XM_017009180.1:c.10833A>T	XP_016864669.1:p.Glu3611Asp
XM_017009181.1:c.10833A>T	XP_016864670.1:p.Glu3611Asp
XM_017009182.1:c.10833A>T	XP_016864671.1:p.Glu3611Asp
XM_017009185.1:c.5922A>T	XP_016864674.1:p.Glu1974Asp
XM_017009186.1:c.5475A>T	XP_016864675.1:p.Glu1825Asp
XM_017009188.1:c.4812A>T	XP_016864677.1:p.Glu1604Asp
XM_024454388.1:c.9738A>T	XP_024310156.1:p.Glu3246Asp
XM_024454389.1:c.9327A>T	XP_024310157.1:p.Glu3109Asp
NM_001369.3:c.10725A>T MANE Select	NP_001360.1:p.Glu3575Asp