Canonical Allele Identifier: CA359199963

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13829680A>C (hg19) ; chr5:g.13829571A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829571A>C , CM000667.2:g.13829571A>C	GRCh38
NC_000005.9:g.13829680A>C , CM000667.1:g.13829680A>C	GRCh37
NC_000005.8:g.13882680A>C	NCBI36
NG_013081.1:g.119910T>G
NG_013081.2:g.119910T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1314T>G
ENST00000265104.5:c.6383T>G MANE Select	ENSP00000265104.4:p.Val2128Gly
ENST00000681290.1:c.6338T>G	ENSP00000505288.1:p.Val2113Gly
ENST00000265104.4:c.6383T>G	ENSP00000265104.4:p.Val2128Gly
NM_001369.2:c.6383T>G	NP_001360.1:p.Val2128Gly
XM_005248262.2:c.6338T>G	XP_005248319.1:p.Val2113Gly
XM_011513990.1:c.6383T>G	XP_011512292.1:p.Val2128Gly
XR_925598.1:n.6590T>G
XM_005248262.3:c.6491T>G	XP_005248319.2:p.Val2164Gly
XM_017009177.1:c.6491T>G	XP_016864666.1:p.Val2164Gly
XM_017009178.1:c.5396T>G	XP_016864667.1:p.Val1799Gly
XM_017009179.2:c.5396T>G	XP_016864668.1:p.Val1799Gly
XM_017009180.1:c.6491T>G	XP_016864669.1:p.Val2164Gly
XM_017009181.1:c.6491T>G	XP_016864670.1:p.Val2164Gly
XM_017009182.1:c.6491T>G	XP_016864671.1:p.Val2164Gly
XM_017009183.1:c.6491T>G	XP_016864672.1:p.Val2164Gly
XM_017009184.1:c.6491T>G	XP_016864673.1:p.Val2164Gly
XM_017009185.1:c.1580T>G	XP_016864674.1:p.Val527Gly
XM_017009186.1:c.1133T>G	XP_016864675.1:p.Val378Gly
XM_017009187.1:c.6491T>G	XP_016864676.1:p.Val2164Gly
XM_017009188.1:c.470T>G	XP_016864677.1:p.Val157Gly
XM_024454388.1:c.5396T>G	XP_024310156.1:p.Val1799Gly
XM_024454389.1:c.4985T>G	XP_024310157.1:p.Val1662Gly
XR_001742034.1:n.6508T>G
XR_001742035.1:n.6508T>G
NM_001369.3:c.6383T>G MANE Select	NP_001360.1:p.Val2128Gly