Canonical Allele Identifier: CA359190005

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13752307T>C (hg19) ; chr5:g.13752198T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752198T>C , CM000667.2:g.13752198T>C	GRCh38
NC_000005.9:g.13752307T>C , CM000667.1:g.13752307T>C	GRCh37
NC_000005.8:g.13805307T>C	NCBI36
NG_013081.1:g.197283A>G
NG_013081.2:g.197283A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10964A>G MANE Select	ENSP00000265104.4:p.Glu3655Gly
ENST00000681290.1:c.10919A>G	ENSP00000505288.1:p.Glu3640Gly
ENST00000265104.4:c.10964A>G	ENSP00000265104.4:p.Glu3655Gly
NM_001369.2:c.10964A>G	NP_001360.1:p.Glu3655Gly
XM_005248262.2:c.10919A>G	XP_005248319.1:p.Glu3640Gly
XM_005248262.3:c.11072A>G	XP_005248319.2:p.Glu3691Gly
XM_017009177.1:c.11072A>G	XP_016864666.1:p.Glu3691Gly
XM_017009178.1:c.9977A>G	XP_016864667.1:p.Glu3326Gly
XM_017009179.2:c.9977A>G	XP_016864668.1:p.Glu3326Gly
XM_017009180.1:c.11072A>G	XP_016864669.1:p.Glu3691Gly
XM_017009181.1:c.11072A>G	XP_016864670.1:p.Glu3691Gly
XM_017009182.1:c.11072A>G	XP_016864671.1:p.Glu3691Gly
XM_017009185.1:c.6161A>G	XP_016864674.1:p.Glu2054Gly
XM_017009186.1:c.5714A>G	XP_016864675.1:p.Glu1905Gly
XM_017009188.1:c.5051A>G	XP_016864677.1:p.Glu1684Gly
XM_024454388.1:c.9977A>G	XP_024310156.1:p.Glu3326Gly
XM_024454389.1:c.9566A>G	XP_024310157.1:p.Glu3189Gly
NM_001369.3:c.10964A>G MANE Select	NP_001360.1:p.Glu3655Gly