Canonical Allele Identifier: CA359208740

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13776664A>T (hg19) ; chr5:g.13776555A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776555A>T , CM000667.2:g.13776555A>T	GRCh38
NC_000005.9:g.13776664A>T , CM000667.1:g.13776664A>T	GRCh37
NC_000005.8:g.13829664A>T	NCBI36
NG_013081.1:g.172926T>A
NG_013081.2:g.172926T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9257T>A MANE Select	ENSP00000265104.4:p.Leu3086His
ENST00000681290.1:c.9212T>A	ENSP00000505288.1:p.Leu3071His
ENST00000265104.4:c.9257T>A	ENSP00000265104.4:p.Leu3086His
NM_001369.2:c.9257T>A	NP_001360.1:p.Leu3086His
XM_005248262.2:c.9212T>A	XP_005248319.1:p.Leu3071His
XM_005248262.3:c.9365T>A	XP_005248319.2:p.Leu3122His
XM_017009177.1:c.9365T>A	XP_016864666.1:p.Leu3122His
XM_017009178.1:c.8270T>A	XP_016864667.1:p.Leu2757His
XM_017009179.2:c.8270T>A	XP_016864668.1:p.Leu2757His
XM_017009180.1:c.9365T>A	XP_016864669.1:p.Leu3122His
XM_017009181.1:c.9365T>A	XP_016864670.1:p.Leu3122His
XM_017009182.1:c.9365T>A	XP_016864671.1:p.Leu3122His
XM_017009183.1:c.9365T>A	XP_016864672.1:p.Leu3122His
XM_017009185.1:c.4454T>A	XP_016864674.1:p.Leu1485His
XM_017009186.1:c.4007T>A	XP_016864675.1:p.Leu1336His
XM_017009188.1:c.3344T>A	XP_016864677.1:p.Leu1115His
XM_024454388.1:c.8270T>A	XP_024310156.1:p.Leu2757His
XM_024454389.1:c.7859T>A	XP_024310157.1:p.Leu2620His
NM_001369.3:c.9257T>A MANE Select	NP_001360.1:p.Leu3086His