Canonical Allele Identifier: CA3201707

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13721062C>T , CM000667.2:g.13721062C>T	GRCh38
NC_000005.9:g.13721171C>T , CM000667.1:g.13721171C>T	GRCh37
NC_000005.8:g.13774171C>T	NCBI36
NG_013081.1:g.228419G>A
NG_013081.2:g.228419G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12217G>A MANE Select	NP_001360.1:p.Val4073Met
ENST00000265104.5:c.12217G>A MANE Select	ENSP00000265104.4:p.Val4073Met
NM_001369.2:c.12217G>A	NP_001360.1:p.Val4073Met
ENST00000265104.4:c.12217G>A	ENSP00000265104.4:p.Val4073Met
ENST00000681290.1:c.12172G>A	ENSP00000505288.1:p.Val4058Met
XM_005248262.2:c.12172G>A	XP_005248319.1:p.Val4058Met
XM_005248262.3:c.12325G>A	XP_005248319.2:p.Val4109Met
XM_017009177.1:c.12325G>A	XP_016864666.1:p.Val4109Met
XM_017009178.1:c.11230G>A	XP_016864667.1:p.Val3744Met
XM_017009179.2:c.11230G>A	XP_016864668.1:p.Val3744Met
XM_017009180.1:c.12325G>A	XP_016864669.1:p.Val4109Met
XM_017009185.1:c.7414G>A	XP_016864674.1:p.Val2472Met
XM_017009186.1:c.6967G>A	XP_016864675.1:p.Val2323Met
XM_017009188.1:c.6304G>A	XP_016864677.1:p.Val2102Met
XM_024454388.1:c.11230G>A	XP_024310156.1:p.Val3744Met
XM_024454389.1:c.10819G>A	XP_024310157.1:p.Val3607Met