Canonical Allele Identifier: CA359224494

Gene: DNAH5

Linked Data

• dbSNP Id: rs1357540801
• gnomAD v3: 5-13735819-T-C
• gnomAD v4: 5-13735819-T-C
• MyVariant Identifiers: chr5:g.13735928T>C (hg19) ; chr5:g.13735819T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735819T>C , CM000667.2:g.13735819T>C	GRCh38
NC_000005.9:g.13735928T>C , CM000667.1:g.13735928T>C	GRCh37
NC_000005.8:g.13788928T>C	NCBI36
NG_013081.1:g.213662A>G
NG_013081.2:g.213662A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11569A>G MANE Select	ENSP00000265104.4:p.Arg3857Gly
ENST00000681290.1:c.11524A>G	ENSP00000505288.1:p.Arg3842Gly
ENST00000265104.4:c.11569A>G	ENSP00000265104.4:p.Arg3857Gly
NM_001369.2:c.11569A>G	NP_001360.1:p.Arg3857Gly
XM_005248262.2:c.11524A>G	XP_005248319.1:p.Arg3842Gly
XM_005248262.3:c.11677A>G	XP_005248319.2:p.Arg3893Gly
XM_017009177.1:c.11677A>G	XP_016864666.1:p.Arg3893Gly
XM_017009178.1:c.10582A>G	XP_016864667.1:p.Arg3528Gly
XM_017009179.2:c.10582A>G	XP_016864668.1:p.Arg3528Gly
XM_017009180.1:c.11677A>G	XP_016864669.1:p.Arg3893Gly
XM_017009181.1:c.11677A>G	XP_016864670.1:p.Arg3893Gly
XM_017009182.1:c.*3A>G	XP_016864671.1:n.*3A>G
XM_017009185.1:c.6766A>G	XP_016864674.1:p.Arg2256Gly
XM_017009186.1:c.6319A>G	XP_016864675.1:p.Arg2107Gly
XM_017009188.1:c.5656A>G	XP_016864677.1:p.Arg1886Gly
XM_024454388.1:c.10582A>G	XP_024310156.1:p.Arg3528Gly
XM_024454389.1:c.10171A>G	XP_024310157.1:p.Arg3391Gly
NM_001369.3:c.11569A>G MANE Select	NP_001360.1:p.Arg3857Gly