Canonical Allele Identifier: CA359196745

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708292T>G (hg19) ; chr5:g.13708183T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708183T>G , CM000667.2:g.13708183T>G	GRCh38
NC_000005.9:g.13708292T>G , CM000667.1:g.13708292T>G	GRCh37
NC_000005.8:g.13761292T>G	NCBI36
NG_013081.1:g.241298A>C
NG_013081.2:g.241298A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.611A>C
ENST00000265104.5:c.13278A>C MANE Select	ENSP00000265104.4:p.Glu4426Asp
ENST00000681290.1:c.13233A>C	ENSP00000505288.1:p.Glu4411Asp
ENST00000265104.4:c.13278A>C	ENSP00000265104.4:p.Glu4426Asp
NM_001369.2:c.13278A>C	NP_001360.1:p.Glu4426Asp
XM_005248262.2:c.13233A>C	XP_005248319.1:p.Glu4411Asp
XM_005248262.3:c.13386A>C	XP_005248319.2:p.Glu4462Asp
XM_017009177.1:c.12966A>C	XP_016864666.1:p.Glu4322Asp
XM_017009178.1:c.12291A>C	XP_016864667.1:p.Glu4097Asp
XM_017009179.2:c.12291A>C	XP_016864668.1:p.Glu4097Asp
XM_017009185.1:c.8475A>C	XP_016864674.1:p.Glu2825Asp
XM_017009186.1:c.8028A>C	XP_016864675.1:p.Glu2676Asp
XM_017009188.1:c.7365A>C	XP_016864677.1:p.Glu2455Asp
XM_024454388.1:c.12291A>C	XP_024310156.1:p.Glu4097Asp
XM_024454389.1:c.11880A>C	XP_024310157.1:p.Glu3960Asp
NM_001369.3:c.13278A>C MANE Select	NP_001360.1:p.Glu4426Asp