Canonical Allele Identifier: CA359208475

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13776636A>C (hg19) ; chr5:g.13776527A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776527A>C , CM000667.2:g.13776527A>C	GRCh38
NC_000005.9:g.13776636A>C , CM000667.1:g.13776636A>C	GRCh37
NC_000005.8:g.13829636A>C	NCBI36
NG_013081.1:g.172954T>G
NG_013081.2:g.172954T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9285T>G MANE Select	ENSP00000265104.4:p.Phe3095Leu
ENST00000681290.1:c.9240T>G	ENSP00000505288.1:p.Phe3080Leu
ENST00000265104.4:c.9285T>G	ENSP00000265104.4:p.Phe3095Leu
NM_001369.2:c.9285T>G	NP_001360.1:p.Phe3095Leu
XM_005248262.2:c.9240T>G	XP_005248319.1:p.Phe3080Leu
XM_005248262.3:c.9393T>G	XP_005248319.2:p.Phe3131Leu
XM_017009177.1:c.9393T>G	XP_016864666.1:p.Phe3131Leu
XM_017009178.1:c.8298T>G	XP_016864667.1:p.Phe2766Leu
XM_017009179.2:c.8298T>G	XP_016864668.1:p.Phe2766Leu
XM_017009180.1:c.9393T>G	XP_016864669.1:p.Phe3131Leu
XM_017009181.1:c.9393T>G	XP_016864670.1:p.Phe3131Leu
XM_017009182.1:c.9393T>G	XP_016864671.1:p.Phe3131Leu
XM_017009183.1:c.9393T>G	XP_016864672.1:p.Phe3131Leu
XM_017009185.1:c.4482T>G	XP_016864674.1:p.Phe1494Leu
XM_017009186.1:c.4035T>G	XP_016864675.1:p.Phe1345Leu
XM_017009188.1:c.3372T>G	XP_016864677.1:p.Phe1124Leu
XM_024454388.1:c.8298T>G	XP_024310156.1:p.Phe2766Leu
XM_024454389.1:c.7887T>G	XP_024310157.1:p.Phe2629Leu
NM_001369.3:c.9285T>G MANE Select	NP_001360.1:p.Phe3095Leu