Canonical Allele Identifier: CA359208339

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13776623A>C (hg19) ; chr5:g.13776514A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776514A>C , CM000667.2:g.13776514A>C	GRCh38
NC_000005.9:g.13776623A>C , CM000667.1:g.13776623A>C	GRCh37
NC_000005.8:g.13829623A>C	NCBI36
NG_013081.1:g.172967T>G
NG_013081.2:g.172967T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9298T>G MANE Select	ENSP00000265104.4:p.Leu3100Val
ENST00000681290.1:c.9253T>G	ENSP00000505288.1:p.Leu3085Val
ENST00000265104.4:c.9298T>G	ENSP00000265104.4:p.Leu3100Val
NM_001369.2:c.9298T>G	NP_001360.1:p.Leu3100Val
XM_005248262.2:c.9253T>G	XP_005248319.1:p.Leu3085Val
XM_005248262.3:c.9406T>G	XP_005248319.2:p.Leu3136Val
XM_017009177.1:c.9406T>G	XP_016864666.1:p.Leu3136Val
XM_017009178.1:c.8311T>G	XP_016864667.1:p.Leu2771Val
XM_017009179.2:c.8311T>G	XP_016864668.1:p.Leu2771Val
XM_017009180.1:c.9406T>G	XP_016864669.1:p.Leu3136Val
XM_017009181.1:c.9406T>G	XP_016864670.1:p.Leu3136Val
XM_017009182.1:c.9406T>G	XP_016864671.1:p.Leu3136Val
XM_017009183.1:c.9406T>G	XP_016864672.1:p.Leu3136Val
XM_017009185.1:c.4495T>G	XP_016864674.1:p.Leu1499Val
XM_017009186.1:c.4048T>G	XP_016864675.1:p.Leu1350Val
XM_017009188.1:c.3385T>G	XP_016864677.1:p.Leu1129Val
XM_024454388.1:c.8311T>G	XP_024310156.1:p.Leu2771Val
XM_024454389.1:c.7900T>G	XP_024310157.1:p.Leu2634Val
NM_001369.3:c.9298T>G MANE Select	NP_001360.1:p.Leu3100Val