Canonical Allele Identifier: CA359188544

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692127A>T (hg19) ; chr5:g.13692018A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692018A>T , CM000667.2:g.13692018A>T	GRCh38
NC_000005.9:g.13692127A>T , CM000667.1:g.13692127A>T	GRCh37
NC_000005.8:g.13745127A>T	NCBI36
NG_013081.1:g.257463T>A
NG_013081.2:g.257463T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1174T>A
ENST00000265104.5:c.13841T>A MANE Select	ENSP00000265104.4:p.Leu4614His
ENST00000681290.1:c.13796T>A	ENSP00000505288.1:p.Leu4599His
ENST00000265104.4:c.13841T>A	ENSP00000265104.4:p.Leu4614His
NM_001369.2:c.13841T>A	NP_001360.1:p.Leu4614His
XM_005248262.2:c.13796T>A	XP_005248319.1:p.Leu4599His
XM_005248262.3:c.13949T>A	XP_005248319.2:p.Leu4650His
XM_017009177.1:c.13529T>A	XP_016864666.1:p.Leu4510His
XM_017009178.1:c.12854T>A	XP_016864667.1:p.Leu4285His
XM_017009179.2:c.12854T>A	XP_016864668.1:p.Leu4285His
XM_017009185.1:c.9038T>A	XP_016864674.1:p.Leu3013His
XM_017009186.1:c.8591T>A	XP_016864675.1:p.Leu2864His
XM_017009188.1:c.7928T>A	XP_016864677.1:p.Leu2643His
XM_024454388.1:c.12854T>A	XP_024310156.1:p.Leu4285His
XM_024454389.1:c.12443T>A	XP_024310157.1:p.Leu4148His
NM_001369.3:c.13841T>A MANE Select	NP_001360.1:p.Leu4614His