Canonical Allele Identifier: CA359218954

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13792038-G-C
• MyVariant Identifiers: chr5:g.13792147G>C (hg19) ; chr5:g.13792038G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792038G>C , CM000667.2:g.13792038G>C	GRCh38
NC_000005.9:g.13792147G>C , CM000667.1:g.13792147G>C	GRCh37
NC_000005.8:g.13845147G>C	NCBI36
NG_013081.1:g.157443C>G
NG_013081.2:g.157443C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8404C>G MANE Select	ENSP00000265104.4:p.Gln2802Glu
ENST00000681290.1:c.8359C>G	ENSP00000505288.1:p.Gln2787Glu
ENST00000265104.4:c.8404C>G	ENSP00000265104.4:p.Gln2802Glu
NM_001369.2:c.8404C>G	NP_001360.1:p.Gln2802Glu
XM_005248262.2:c.8359C>G	XP_005248319.1:p.Gln2787Glu
XM_011513990.1:c.8404C>G	XP_011512292.1:p.Gln2802Glu
XR_925598.1:n.8611C>G
XM_005248262.3:c.8512C>G	XP_005248319.2:p.Gln2838Glu
XM_017009177.1:c.8512C>G	XP_016864666.1:p.Gln2838Glu
XM_017009178.1:c.7417C>G	XP_016864667.1:p.Gln2473Glu
XM_017009179.2:c.7417C>G	XP_016864668.1:p.Gln2473Glu
XM_017009180.1:c.8512C>G	XP_016864669.1:p.Gln2838Glu
XM_017009181.1:c.8512C>G	XP_016864670.1:p.Gln2838Glu
XM_017009182.1:c.8512C>G	XP_016864671.1:p.Gln2838Glu
XM_017009183.1:c.8512C>G	XP_016864672.1:p.Gln2838Glu
XM_017009184.1:c.8512C>G	XP_016864673.1:p.Gln2838Glu
XM_017009185.1:c.3601C>G	XP_016864674.1:p.Gln1201Glu
XM_017009186.1:c.3154C>G	XP_016864675.1:p.Gln1052Glu
XM_017009188.1:c.2491C>G	XP_016864677.1:p.Gln831Glu
XM_024454388.1:c.7417C>G	XP_024310156.1:p.Gln2473Glu
XM_024454389.1:c.7006C>G	XP_024310157.1:p.Gln2336Glu
XR_001742034.1:n.8529C>G
XR_001742035.1:n.8529C>G
NM_001369.3:c.8404C>G MANE Select	NP_001360.1:p.Gln2802Glu