Canonical Allele Identifier: CA359199400

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13829635T>G (hg19) ; chr5:g.13829526T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829526T>G , CM000667.2:g.13829526T>G	GRCh38
NC_000005.9:g.13829635T>G , CM000667.1:g.13829635T>G	GRCh37
NC_000005.8:g.13882635T>G	NCBI36
NG_013081.1:g.119955A>C
NG_013081.2:g.119955A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683090.1:n.1359A>C
ENST00000265104.5:c.6428A>C MANE Select	ENSP00000265104.4:p.Glu2143Ala
ENST00000681290.1:c.6383A>C	ENSP00000505288.1:p.Glu2128Ala
ENST00000265104.4:c.6428A>C	ENSP00000265104.4:p.Glu2143Ala
NM_001369.2:c.6428A>C	NP_001360.1:p.Glu2143Ala
XM_005248262.2:c.6383A>C	XP_005248319.1:p.Glu2128Ala
XM_011513990.1:c.6428A>C	XP_011512292.1:p.Glu2143Ala
XR_925598.1:n.6635A>C
XM_005248262.3:c.6536A>C	XP_005248319.2:p.Glu2179Ala
XM_017009177.1:c.6536A>C	XP_016864666.1:p.Glu2179Ala
XM_017009178.1:c.5441A>C	XP_016864667.1:p.Glu1814Ala
XM_017009179.2:c.5441A>C	XP_016864668.1:p.Glu1814Ala
XM_017009180.1:c.6536A>C	XP_016864669.1:p.Glu2179Ala
XM_017009181.1:c.6536A>C	XP_016864670.1:p.Glu2179Ala
XM_017009182.1:c.6536A>C	XP_016864671.1:p.Glu2179Ala
XM_017009183.1:c.6536A>C	XP_016864672.1:p.Glu2179Ala
XM_017009184.1:c.6536A>C	XP_016864673.1:p.Glu2179Ala
XM_017009185.1:c.1625A>C	XP_016864674.1:p.Glu542Ala
XM_017009186.1:c.1178A>C	XP_016864675.1:p.Glu393Ala
XM_017009187.1:c.6536A>C	XP_016864676.1:p.Glu2179Ala
XM_017009188.1:c.515A>C	XP_016864677.1:p.Glu172Ala
XM_024454388.1:c.5441A>C	XP_024310156.1:p.Glu1814Ala
XM_024454389.1:c.5030A>C	XP_024310157.1:p.Glu1677Ala
XR_001742034.1:n.6553A>C
XR_001742035.1:n.6553A>C
NM_001369.3:c.6428A>C MANE Select	NP_001360.1:p.Glu2143Ala