Canonical Allele Identifier: CA359217792

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13727531C>T , CM000667.2:g.13727531C>T	GRCh38
NC_000005.9:g.13727640C>T , CM000667.1:g.13727640C>T	GRCh37
NC_000005.8:g.13780640C>T	NCBI36
NG_013081.1:g.221950G>A
NG_013081.2:g.221950G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12009G>A MANE Select	NP_001360.1:p.Trp4003Ter
ENST00000265104.5:c.12009G>A MANE Select	ENSP00000265104.4:p.Trp4003Ter
NM_001369.2:c.12009G>A	NP_001360.1:p.Trp4003Ter
ENST00000265104.4:c.12009G>A	ENSP00000265104.4:p.Trp4003Ter
ENST00000681290.1:c.11964G>A	ENSP00000505288.1:p.Trp3988Ter
XM_005248262.2:c.11964G>A	XP_005248319.1:p.Trp3988Ter
XM_005248262.3:c.12117G>A	XP_005248319.2:p.Trp4039Ter
XM_017009177.1:c.12117G>A	XP_016864666.1:p.Trp4039Ter
XM_017009178.1:c.11022G>A	XP_016864667.1:p.Trp3674Ter
XM_017009179.2:c.11022G>A	XP_016864668.1:p.Trp3674Ter
XM_017009180.1:c.12117G>A	XP_016864669.1:p.Trp4039Ter
XM_017009185.1:c.7206G>A	XP_016864674.1:p.Trp2402Ter
XM_017009186.1:c.6759G>A	XP_016864675.1:p.Trp2253Ter
XM_017009188.1:c.6096G>A	XP_016864677.1:p.Trp2032Ter
XM_024454388.1:c.11022G>A	XP_024310156.1:p.Trp3674Ter
XM_024454389.1:c.10611G>A	XP_024310157.1:p.Trp3537Ter