Canonical Allele Identifier: CA359218807

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13919228-T-C
• MyVariant Identifiers: chr5:g.13919337T>C (hg19) ; chr5:g.13919228T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919228T>C , CM000667.2:g.13919228T>C	GRCh38
NC_000005.9:g.13919337T>C , CM000667.1:g.13919337T>C	GRCh37
NC_000005.8:g.13972337T>C	NCBI36
NG_013081.1:g.30253A>G
NG_013081.2:g.30253A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.979A>G
ENST00000682376.1:n.967A>G
ENST00000682586.1:n.1016A>G
ENST00000683011.1:n.862A>G
ENST00000683967.1:n.1022A>G
ENST00000684013.1:n.1022A>G
ENST00000684099.1:n.1018A>G
ENST00000265104.5:c.923A>G MANE Select	ENSP00000265104.4:p.Asp308Gly
ENST00000680213.1:c.683A>G	ENSP00000506622.1:p.Asp228Gly
ENST00000681290.1:c.878A>G	ENSP00000505288.1:p.Asp293Gly
ENST00000265104.4:c.923A>G	ENSP00000265104.4:p.Asp308Gly
ENST00000508040.1:n.1331A>G
NM_001369.2:c.923A>G	NP_001360.1:p.Asp308Gly
XM_005248262.2:c.878A>G	XP_005248319.1:p.Asp293Gly
XM_011513990.1:c.923A>G	XP_011512292.1:p.Asp308Gly
XR_925598.1:n.1130A>G
XM_005248262.3:c.1031A>G	XP_005248319.2:p.Asp344Gly
XM_017009177.1:c.1031A>G	XP_016864666.1:p.Asp344Gly
XM_017009178.1:c.-65A>G	XP_016864667.1:n.-65A>G
XM_017009180.1:c.1031A>G	XP_016864669.1:p.Asp344Gly
XM_017009181.1:c.1031A>G	XP_016864670.1:p.Asp344Gly
XM_017009182.1:c.1031A>G	XP_016864671.1:p.Asp344Gly
XM_017009183.1:c.1031A>G	XP_016864672.1:p.Asp344Gly
XM_017009184.1:c.1031A>G	XP_016864673.1:p.Asp344Gly
XM_017009187.1:c.1031A>G	XP_016864676.1:p.Asp344Gly
XM_024454388.1:c.-1984A>G	XP_024310156.1:n.-1984A>G
XM_024454389.1:c.-1037A>G	XP_024310157.1:n.-1037A>G
XR_001742034.1:n.1048A>G
XR_001742035.1:n.1048A>G
NM_001369.3:c.923A>G MANE Select	NP_001360.1:p.Asp308Gly