Canonical Allele Identifier: CA359205312

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770955A>T , CM000667.2:g.13770955A>T	GRCh38
NC_000005.9:g.13771064A>T , CM000667.1:g.13771064A>T	GRCh37
NC_000005.8:g.13824064A>T	NCBI36
NG_013081.1:g.178526T>A
NG_013081.2:g.178526T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9399T>A MANE Select	NP_001360.1:p.Tyr3133Ter
ENST00000265104.5:c.9399T>A MANE Select	ENSP00000265104.4:p.Tyr3133Ter
NM_001369.2:c.9399T>A	NP_001360.1:p.Tyr3133Ter
ENST00000265104.4:c.9399T>A	ENSP00000265104.4:p.Tyr3133Ter
ENST00000504001.3:n.111T>A
ENST00000681290.1:c.9354T>A	ENSP00000505288.1:p.Tyr3118Ter
XM_005248262.2:c.9354T>A	XP_005248319.1:p.Tyr3118Ter
XM_005248262.3:c.9507T>A	XP_005248319.2:p.Tyr3169Ter
XM_017009177.1:c.9507T>A	XP_016864666.1:p.Tyr3169Ter
XM_017009178.1:c.8412T>A	XP_016864667.1:p.Tyr2804Ter
XM_017009179.2:c.8412T>A	XP_016864668.1:p.Tyr2804Ter
XM_017009180.1:c.9507T>A	XP_016864669.1:p.Tyr3169Ter
XM_017009181.1:c.9507T>A	XP_016864670.1:p.Tyr3169Ter
XM_017009182.1:c.9507T>A	XP_016864671.1:p.Tyr3169Ter
XM_017009183.1:c.9507T>A	XP_016864672.1:p.Tyr3169Ter
XM_017009185.1:c.4596T>A	XP_016864674.1:p.Tyr1532Ter
XM_017009186.1:c.4149T>A	XP_016864675.1:p.Tyr1383Ter
XM_017009188.1:c.3486T>A	XP_016864677.1:p.Tyr1162Ter
XM_024454388.1:c.8412T>A	XP_024310156.1:p.Tyr2804Ter
XM_024454389.1:c.8001T>A	XP_024310157.1:p.Tyr2667Ter