Canonical Allele Identifier: CA3201231

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692022C>T , CM000667.2:g.13692022C>T	GRCh38
NC_000005.9:g.13692131C>T , CM000667.1:g.13692131C>T	GRCh37
NC_000005.8:g.13745131C>T	NCBI36
NG_013081.1:g.257459G>A
NG_013081.2:g.257459G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.13837G>A MANE Select	NP_001360.1:p.Val4613Met
ENST00000265104.5:c.13837G>A MANE Select	ENSP00000265104.4:p.Val4613Met
NM_001369.2:c.13837G>A	NP_001360.1:p.Val4613Met
ENST00000265104.4:c.13837G>A	ENSP00000265104.4:p.Val4613Met
ENST00000681290.1:c.13792G>A	ENSP00000505288.1:p.Val4598Met
ENST00000683611.1:n.1170G>A
XM_005248262.2:c.13792G>A	XP_005248319.1:p.Val4598Met
XM_005248262.3:c.13945G>A	XP_005248319.2:p.Val4649Met
XM_017009177.1:c.13525G>A	XP_016864666.1:p.Val4509Met
XM_017009178.1:c.12850G>A	XP_016864667.1:p.Val4284Met
XM_017009179.2:c.12850G>A	XP_016864668.1:p.Val4284Met
XM_017009185.1:c.9034G>A	XP_016864674.1:p.Val3012Met
XM_017009186.1:c.8587G>A	XP_016864675.1:p.Val2863Met
XM_017009188.1:c.7924G>A	XP_016864677.1:p.Val2642Met
XM_024454388.1:c.12850G>A	XP_024310156.1:p.Val4284Met
XM_024454389.1:c.12439G>A	XP_024310157.1:p.Val4147Met