Canonical Allele Identifier: CA359192071

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753579G>C (hg19) ; chr5:g.13753470G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753470G>C , CM000667.2:g.13753470G>C	GRCh38
NC_000005.9:g.13753579G>C , CM000667.1:g.13753579G>C	GRCh37
NC_000005.8:g.13806579G>C	NCBI36
NG_013081.1:g.196011C>G
NG_013081.2:g.196011C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.10635C>G MANE Select	ENSP00000265104.4:p.Asp3545Glu
ENST00000681290.1:c.10590C>G	ENSP00000505288.1:p.Asp3530Glu
ENST00000265104.4:c.10635C>G	ENSP00000265104.4:p.Asp3545Glu
NM_001369.2:c.10635C>G	NP_001360.1:p.Asp3545Glu
XM_005248262.2:c.10590C>G	XP_005248319.1:p.Asp3530Glu
XM_005248262.3:c.10743C>G	XP_005248319.2:p.Asp3581Glu
XM_017009177.1:c.10743C>G	XP_016864666.1:p.Asp3581Glu
XM_017009178.1:c.9648C>G	XP_016864667.1:p.Asp3216Glu
XM_017009179.2:c.9648C>G	XP_016864668.1:p.Asp3216Glu
XM_017009180.1:c.10743C>G	XP_016864669.1:p.Asp3581Glu
XM_017009181.1:c.10743C>G	XP_016864670.1:p.Asp3581Glu
XM_017009182.1:c.10743C>G	XP_016864671.1:p.Asp3581Glu
XM_017009185.1:c.5832C>G	XP_016864674.1:p.Asp1944Glu
XM_017009186.1:c.5385C>G	XP_016864675.1:p.Asp1795Glu
XM_017009188.1:c.4722C>G	XP_016864677.1:p.Asp1574Glu
XM_024454388.1:c.9648C>G	XP_024310156.1:p.Asp3216Glu
XM_024454389.1:c.9237C>G	XP_024310157.1:p.Asp3079Glu
NM_001369.3:c.10635C>G MANE Select	NP_001360.1:p.Asp3545Glu