Canonical Allele Identifier: CA443275875

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13919227-A-G
• MyVariant Identifiers: chr5:g.13919336A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919227A>G , CM000667.2:g.13919227A>G	GRCh38
NC_000005.9:g.13919336A>G , CM000667.1:g.13919336A>G	GRCh37
NC_000005.8:g.13972336A>G	NCBI36
NG_013081.1:g.30254T>C
NG_013081.2:g.30254T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.980T>C
ENST00000682376.1:n.968T>C
ENST00000682586.1:n.1017T>C
ENST00000683011.1:n.863T>C
ENST00000683967.1:n.1023T>C
ENST00000684013.1:n.1023T>C
ENST00000684099.1:n.1019T>C
ENST00000265104.5:c.924T>C MANE Select	ENSP00000265104.4:p.Asp308=
ENST00000680213.1:c.684T>C	ENSP00000506622.1:p.Asp228=
ENST00000681290.1:c.879T>C	ENSP00000505288.1:p.Asp293=
ENST00000265104.4:c.924T>C	ENSP00000265104.4:p.Asp308=
ENST00000508040.1:n.1332T>C
NM_001369.2:c.924T>C	NP_001360.1:p.Asp308=
XM_005248262.2:c.879T>C	XP_005248319.1:p.Asp293=
XM_011513990.1:c.924T>C	XP_011512292.1:p.Asp308=
XR_925598.1:n.1131T>C
XM_005248262.3:c.1032T>C	XP_005248319.2:p.Asp344=
XM_017009177.1:c.1032T>C	XP_016864666.1:p.Asp344=
XM_017009178.1:c.-64T>C	XP_016864667.1:n.-64T>C
XM_017009180.1:c.1032T>C	XP_016864669.1:p.Asp344=
XM_017009181.1:c.1032T>C	XP_016864670.1:p.Asp344=
XM_017009182.1:c.1032T>C	XP_016864671.1:p.Asp344=
XM_017009183.1:c.1032T>C	XP_016864672.1:p.Asp344=
XM_017009184.1:c.1032T>C	XP_016864673.1:p.Asp344=
XM_017009187.1:c.1032T>C	XP_016864676.1:p.Asp344=
XM_024454388.1:c.-1983T>C	XP_024310156.1:n.-1983T>C
XM_024454389.1:c.-1036T>C	XP_024310157.1:n.-1036T>C
XR_001742034.1:n.1049T>C
XR_001742035.1:n.1049T>C
NM_001369.3:c.924T>C MANE Select	NP_001360.1:p.Asp308=