Canonical Allele Identifier: CA359219098

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13792175A>C (hg19) ; chr5:g.13792066A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792066A>C , CM000667.2:g.13792066A>C	GRCh38
NC_000005.9:g.13792175A>C , CM000667.1:g.13792175A>C	GRCh37
NC_000005.8:g.13845175A>C	NCBI36
NG_013081.1:g.157415T>G
NG_013081.2:g.157415T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8376T>G MANE Select	ENSP00000265104.4:p.Phe2792Leu
ENST00000681290.1:c.8331T>G	ENSP00000505288.1:p.Phe2777Leu
ENST00000265104.4:c.8376T>G	ENSP00000265104.4:p.Phe2792Leu
NM_001369.2:c.8376T>G	NP_001360.1:p.Phe2792Leu
XM_005248262.2:c.8331T>G	XP_005248319.1:p.Phe2777Leu
XM_011513990.1:c.8376T>G	XP_011512292.1:p.Phe2792Leu
XR_925598.1:n.8583T>G
XM_005248262.3:c.8484T>G	XP_005248319.2:p.Phe2828Leu
XM_017009177.1:c.8484T>G	XP_016864666.1:p.Phe2828Leu
XM_017009178.1:c.7389T>G	XP_016864667.1:p.Phe2463Leu
XM_017009179.2:c.7389T>G	XP_016864668.1:p.Phe2463Leu
XM_017009180.1:c.8484T>G	XP_016864669.1:p.Phe2828Leu
XM_017009181.1:c.8484T>G	XP_016864670.1:p.Phe2828Leu
XM_017009182.1:c.8484T>G	XP_016864671.1:p.Phe2828Leu
XM_017009183.1:c.8484T>G	XP_016864672.1:p.Phe2828Leu
XM_017009184.1:c.8484T>G	XP_016864673.1:p.Phe2828Leu
XM_017009185.1:c.3573T>G	XP_016864674.1:p.Phe1191Leu
XM_017009186.1:c.3126T>G	XP_016864675.1:p.Phe1042Leu
XM_017009188.1:c.2463T>G	XP_016864677.1:p.Phe821Leu
XM_024454388.1:c.7389T>G	XP_024310156.1:p.Phe2463Leu
XM_024454389.1:c.6978T>G	XP_024310157.1:p.Phe2326Leu
XR_001742034.1:n.8501T>G
XR_001742035.1:n.8501T>G
NM_001369.3:c.8376T>G MANE Select	NP_001360.1:p.Phe2792Leu