Canonical Allele Identifier: CA359197849

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708392A>T (hg19) ; chr5:g.13708283A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708283A>T , CM000667.2:g.13708283A>T	GRCh38
NC_000005.9:g.13708392A>T , CM000667.1:g.13708392A>T	GRCh37
NC_000005.8:g.13761392A>T	NCBI36
NG_013081.1:g.241198T>A
NG_013081.2:g.241198T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.511T>A
ENST00000265104.5:c.13178T>A MANE Select	ENSP00000265104.4:p.Leu4393His
ENST00000681290.1:c.13133T>A	ENSP00000505288.1:p.Leu4378His
ENST00000265104.4:c.13178T>A	ENSP00000265104.4:p.Leu4393His
NM_001369.2:c.13178T>A	NP_001360.1:p.Leu4393His
XM_005248262.2:c.13133T>A	XP_005248319.1:p.Leu4378His
XM_005248262.3:c.13286T>A	XP_005248319.2:p.Leu4429His
XM_017009177.1:c.12866T>A	XP_016864666.1:p.Leu4289His
XM_017009178.1:c.12191T>A	XP_016864667.1:p.Leu4064His
XM_017009179.2:c.12191T>A	XP_016864668.1:p.Leu4064His
XM_017009185.1:c.8375T>A	XP_016864674.1:p.Leu2792His
XM_017009186.1:c.7928T>A	XP_016864675.1:p.Leu2643His
XM_017009188.1:c.7265T>A	XP_016864677.1:p.Leu2422His
XM_024454388.1:c.12191T>A	XP_024310156.1:p.Leu4064His
XM_024454389.1:c.11780T>A	XP_024310157.1:p.Leu3927His
NM_001369.3:c.13178T>A MANE Select	NP_001360.1:p.Leu4393His