Canonical Allele Identifier: CA359196261

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13886119T>G (hg19) ; chr5:g.13886010T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13886010T>G , CM000667.2:g.13886010T>G	GRCh38
NC_000005.9:g.13886119T>G , CM000667.1:g.13886119T>G	GRCh37
NC_000005.8:g.13939119T>G	NCBI36
NG_013081.1:g.63471A>C
NG_013081.2:g.63471A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.2697A>C MANE Select	ENSP00000265104.4:p.Glu899Asp
ENST00000681290.1:c.2652A>C	ENSP00000505288.1:p.Glu884Asp
ENST00000265104.4:c.2697A>C	ENSP00000265104.4:p.Glu899Asp
NM_001369.2:c.2697A>C	NP_001360.1:p.Glu899Asp
XM_005248262.2:c.2652A>C	XP_005248319.1:p.Glu884Asp
XM_011513990.1:c.2697A>C	XP_011512292.1:p.Glu899Asp
XR_925598.1:n.2904A>C
XM_005248262.3:c.2805A>C	XP_005248319.2:p.Glu935Asp
XM_017009177.1:c.2805A>C	XP_016864666.1:p.Glu935Asp
XM_017009178.1:c.1710A>C	XP_016864667.1:p.Glu570Asp
XM_017009179.2:c.1710A>C	XP_016864668.1:p.Glu570Asp
XM_017009180.1:c.2805A>C	XP_016864669.1:p.Glu935Asp
XM_017009181.1:c.2805A>C	XP_016864670.1:p.Glu935Asp
XM_017009182.1:c.2805A>C	XP_016864671.1:p.Glu935Asp
XM_017009183.1:c.2805A>C	XP_016864672.1:p.Glu935Asp
XM_017009184.1:c.2805A>C	XP_016864673.1:p.Glu935Asp
XM_017009187.1:c.2805A>C	XP_016864676.1:p.Glu935Asp
XM_024454388.1:c.1710A>C	XP_024310156.1:p.Glu570Asp
XM_024454389.1:c.1299A>C	XP_024310157.1:p.Glu433Asp
XR_001742034.1:n.2822A>C
XR_001742035.1:n.2822A>C
NM_001369.3:c.2697A>C MANE Select	NP_001360.1:p.Glu899Asp