Canonical Allele Identifier: CA359224635

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13735956A>T (hg19) ; chr5:g.13735847A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735847A>T , CM000667.2:g.13735847A>T	GRCh38
NC_000005.9:g.13735956A>T , CM000667.1:g.13735956A>T	GRCh37
NC_000005.8:g.13788956A>T	NCBI36
NG_013081.1:g.213634T>A
NG_013081.2:g.213634T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11541T>A MANE Select	ENSP00000265104.4:p.Phe3847Leu
ENST00000681290.1:c.11496T>A	ENSP00000505288.1:p.Phe3832Leu
ENST00000265104.4:c.11541T>A	ENSP00000265104.4:p.Phe3847Leu
NM_001369.2:c.11541T>A	NP_001360.1:p.Phe3847Leu
XM_005248262.2:c.11496T>A	XP_005248319.1:p.Phe3832Leu
XM_005248262.3:c.11649T>A	XP_005248319.2:p.Phe3883Leu
XM_017009177.1:c.11649T>A	XP_016864666.1:p.Phe3883Leu
XM_017009178.1:c.10554T>A	XP_016864667.1:p.Phe3518Leu
XM_017009179.2:c.10554T>A	XP_016864668.1:p.Phe3518Leu
XM_017009180.1:c.11649T>A	XP_016864669.1:p.Phe3883Leu
XM_017009181.1:c.11649T>A	XP_016864670.1:p.Phe3883Leu
XM_017009182.1:c.11405T>A	XP_016864671.1:p.Phe3802Tyr
XM_017009185.1:c.6738T>A	XP_016864674.1:p.Phe2246Leu
XM_017009186.1:c.6291T>A	XP_016864675.1:p.Phe2097Leu
XM_017009188.1:c.5628T>A	XP_016864677.1:p.Phe1876Leu
XM_024454388.1:c.10554T>A	XP_024310156.1:p.Phe3518Leu
XM_024454389.1:c.10143T>A	XP_024310157.1:p.Phe3381Leu
NM_001369.3:c.11541T>A MANE Select	NP_001360.1:p.Phe3847Leu