Canonical Allele Identifier: CA359213401

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13913881C>A (hg19) ; chr5:g.13913772C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13913772C>A , CM000667.2:g.13913772C>A	GRCh38
NC_000005.9:g.13913881C>A , CM000667.1:g.13913881C>A	GRCh37
NC_000005.8:g.13966881C>A	NCBI36
NG_013081.1:g.35709G>T
NG_013081.2:g.35709G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.1563G>T
ENST00000682376.1:n.5736G>T
ENST00000683011.1:n.1446G>T
ENST00000683967.1:n.3872G>T
ENST00000684013.1:n.2167G>T
ENST00000684099.1:n.2163G>T
ENST00000265104.5:c.1507G>T MANE Select	ENSP00000265104.4:p.Gly503Trp
ENST00000680213.1:c.1267G>T	ENSP00000506622.1:p.Gly423Trp
ENST00000681290.1:c.1462G>T	ENSP00000505288.1:p.Gly488Trp
ENST00000265104.4:c.1507G>T	ENSP00000265104.4:p.Gly503Trp
ENST00000508040.1:n.1915G>T
NM_001369.2:c.1507G>T	NP_001360.1:p.Gly503Trp
XM_005248262.2:c.1462G>T	XP_005248319.1:p.Gly488Trp
XM_011513990.1:c.1507G>T	XP_011512292.1:p.Gly503Trp
XR_925598.1:n.1714G>T
XM_005248262.3:c.1615G>T	XP_005248319.2:p.Gly539Trp
XM_017009177.1:c.1615G>T	XP_016864666.1:p.Gly539Trp
XM_017009178.1:c.520G>T	XP_016864667.1:p.Gly174Trp
XM_017009179.2:c.520G>T	XP_016864668.1:p.Gly174Trp
XM_017009180.1:c.1615G>T	XP_016864669.1:p.Gly539Trp
XM_017009181.1:c.1615G>T	XP_016864670.1:p.Gly539Trp
XM_017009182.1:c.1615G>T	XP_016864671.1:p.Gly539Trp
XM_017009183.1:c.1615G>T	XP_016864672.1:p.Gly539Trp
XM_017009184.1:c.1615G>T	XP_016864673.1:p.Gly539Trp
XM_017009187.1:c.1615G>T	XP_016864676.1:p.Gly539Trp
XM_024454388.1:c.520G>T	XP_024310156.1:p.Gly174Trp
XM_024454389.1:c.109G>T	XP_024310157.1:p.Gly37Trp
XR_001742034.1:n.1632G>T
XR_001742035.1:n.1632G>T
NM_001369.3:c.1507G>T MANE Select	NP_001360.1:p.Gly503Trp