Canonical Allele Identifier: CA359198268

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708425T>C (hg19) ; chr5:g.13708316T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708316T>C , CM000667.2:g.13708316T>C	GRCh38
NC_000005.9:g.13708425T>C , CM000667.1:g.13708425T>C	GRCh37
NC_000005.8:g.13761425T>C	NCBI36
NG_013081.1:g.241165A>G
NG_013081.2:g.241165A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.478A>G
ENST00000265104.5:c.13145A>G MANE Select	ENSP00000265104.4:p.Lys4382Arg
ENST00000681290.1:c.13100A>G	ENSP00000505288.1:p.Lys4367Arg
ENST00000265104.4:c.13145A>G	ENSP00000265104.4:p.Lys4382Arg
NM_001369.2:c.13145A>G	NP_001360.1:p.Lys4382Arg
XM_005248262.2:c.13100A>G	XP_005248319.1:p.Lys4367Arg
XM_005248262.3:c.13253A>G	XP_005248319.2:p.Lys4418Arg
XM_017009177.1:c.12833A>G	XP_016864666.1:p.Lys4278Arg
XM_017009178.1:c.12158A>G	XP_016864667.1:p.Lys4053Arg
XM_017009179.2:c.12158A>G	XP_016864668.1:p.Lys4053Arg
XM_017009185.1:c.8342A>G	XP_016864674.1:p.Lys2781Arg
XM_017009186.1:c.7895A>G	XP_016864675.1:p.Lys2632Arg
XM_017009188.1:c.7232A>G	XP_016864677.1:p.Lys2411Arg
XM_024454388.1:c.12158A>G	XP_024310156.1:p.Lys4053Arg
XM_024454389.1:c.11747A>G	XP_024310157.1:p.Lys3916Arg
NM_001369.3:c.13145A>G MANE Select	NP_001360.1:p.Lys4382Arg