Canonical Allele Identifier: CA359206423

Gene: DNAH5

Linked Data

• dbSNP Id: rs1390701361
• gnomAD v2: 5-13717456-G-C
• gnomAD v4: 5-13717347-G-C
• MyVariant Identifiers: chr5:g.13717456G>C (hg19) ; chr5:g.13717347G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717347G>C , CM000667.2:g.13717347G>C	GRCh38
NC_000005.9:g.13717456G>C , CM000667.1:g.13717456G>C	GRCh37
NC_000005.8:g.13770456G>C	NCBI36
NG_013081.1:g.232134C>G
NG_013081.2:g.232134C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12673C>G MANE Select	ENSP00000265104.4:p.Gln4225Glu
ENST00000681290.1:c.12628C>G	ENSP00000505288.1:p.Gln4210Glu
ENST00000265104.4:c.12673C>G	ENSP00000265104.4:p.Gln4225Glu
NM_001369.2:c.12673C>G	NP_001360.1:p.Gln4225Glu
XM_005248262.2:c.12628C>G	XP_005248319.1:p.Gln4210Glu
XM_005248262.3:c.12781C>G	XP_005248319.2:p.Gln4261Glu
XM_017009177.1:c.12781C>G	XP_016864666.1:p.Gln4261Glu
XM_017009178.1:c.11686C>G	XP_016864667.1:p.Gln3896Glu
XM_017009179.2:c.11686C>G	XP_016864668.1:p.Gln3896Glu
XM_017009180.1:c.12781C>G	XP_016864669.1:p.Gln4261Glu
XM_017009185.1:c.7870C>G	XP_016864674.1:p.Gln2624Glu
XM_017009186.1:c.7423C>G	XP_016864675.1:p.Gln2475Glu
XM_017009188.1:c.6760C>G	XP_016864677.1:p.Gln2254Glu
XM_024454388.1:c.11686C>G	XP_024310156.1:p.Gln3896Glu
XM_024454389.1:c.11275C>G	XP_024310157.1:p.Gln3759Glu
NM_001369.3:c.12673C>G MANE Select	NP_001360.1:p.Gln4225Glu