Canonical Allele Identifier: CA359199431

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13829639C>T (hg19) ; chr5:g.13829530C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829530C>T , CM000667.2:g.13829530C>T	GRCh38
NC_000005.9:g.13829639C>T , CM000667.1:g.13829639C>T	GRCh37
NC_000005.8:g.13882639C>T	NCBI36
NG_013081.1:g.119951G>A
NG_013081.2:g.119951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1355G>A
ENST00000265104.5:c.6424G>A MANE Select	ENSP00000265104.4:p.Glu2142Lys
ENST00000681290.1:c.6379G>A	ENSP00000505288.1:p.Glu2127Lys
ENST00000265104.4:c.6424G>A	ENSP00000265104.4:p.Glu2142Lys
NM_001369.2:c.6424G>A	NP_001360.1:p.Glu2142Lys
XM_005248262.2:c.6379G>A	XP_005248319.1:p.Glu2127Lys
XM_011513990.1:c.6424G>A	XP_011512292.1:p.Glu2142Lys
XR_925598.1:n.6631G>A
XM_005248262.3:c.6532G>A	XP_005248319.2:p.Glu2178Lys
XM_017009177.1:c.6532G>A	XP_016864666.1:p.Glu2178Lys
XM_017009178.1:c.5437G>A	XP_016864667.1:p.Glu1813Lys
XM_017009179.2:c.5437G>A	XP_016864668.1:p.Glu1813Lys
XM_017009180.1:c.6532G>A	XP_016864669.1:p.Glu2178Lys
XM_017009181.1:c.6532G>A	XP_016864670.1:p.Glu2178Lys
XM_017009182.1:c.6532G>A	XP_016864671.1:p.Glu2178Lys
XM_017009183.1:c.6532G>A	XP_016864672.1:p.Glu2178Lys
XM_017009184.1:c.6532G>A	XP_016864673.1:p.Glu2178Lys
XM_017009185.1:c.1621G>A	XP_016864674.1:p.Glu541Lys
XM_017009186.1:c.1174G>A	XP_016864675.1:p.Glu392Lys
XM_017009187.1:c.6532G>A	XP_016864676.1:p.Glu2178Lys
XM_017009188.1:c.511G>A	XP_016864677.1:p.Glu171Lys
XM_024454388.1:c.5437G>A	XP_024310156.1:p.Glu1813Lys
XM_024454389.1:c.5026G>A	XP_024310157.1:p.Glu1676Lys
XR_001742034.1:n.6549G>A
XR_001742035.1:n.6549G>A
NM_001369.3:c.6424G>A MANE Select	NP_001360.1:p.Glu2142Lys