Canonical Allele Identifier: CA3202204

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13754250C>T , CM000667.2:g.13754250C>T	GRCh38
NC_000005.9:g.13754359C>T , CM000667.1:g.13754359C>T	GRCh37
NC_000005.8:g.13807359C>T	NCBI36
NG_013081.1:g.195231G>A
NG_013081.2:g.195231G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.10508G>A MANE Select	NP_001360.1:p.Trp3503Ter
ENST00000265104.5:c.10508G>A MANE Select	ENSP00000265104.4:p.Trp3503Ter
NM_001369.2:c.10508G>A	NP_001360.1:p.Trp3503Ter
ENST00000265104.4:c.10508G>A	ENSP00000265104.4:p.Trp3503Ter
ENST00000681290.1:c.10463G>A	ENSP00000505288.1:p.Trp3488Ter
XM_005248262.2:c.10463G>A	XP_005248319.1:p.Trp3488Ter
XM_005248262.3:c.10616G>A	XP_005248319.2:p.Trp3539Ter
XM_017009177.1:c.10616G>A	XP_016864666.1:p.Trp3539Ter
XM_017009178.1:c.9521G>A	XP_016864667.1:p.Trp3174Ter
XM_017009179.2:c.9521G>A	XP_016864668.1:p.Trp3174Ter
XM_017009180.1:c.10616G>A	XP_016864669.1:p.Trp3539Ter
XM_017009181.1:c.10616G>A	XP_016864670.1:p.Trp3539Ter
XM_017009182.1:c.10616G>A	XP_016864671.1:p.Trp3539Ter
XM_017009185.1:c.5705G>A	XP_016864674.1:p.Trp1902Ter
XM_017009186.1:c.5258G>A	XP_016864675.1:p.Trp1753Ter
XM_017009188.1:c.4595G>A	XP_016864677.1:p.Trp1532Ter
XM_024454388.1:c.9521G>A	XP_024310156.1:p.Trp3174Ter
XM_024454389.1:c.9110G>A	XP_024310157.1:p.Trp3037Ter