Canonical Allele Identifier: CA359208800

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13718888A>G , CM000667.2:g.13718888A>G	GRCh38
NC_000005.9:g.13718997A>G , CM000667.1:g.13718997A>G	GRCh37
NC_000005.8:g.13771997A>G	NCBI36
NG_013081.1:g.230593T>C
NG_013081.2:g.230593T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12493T>C MANE Select	NP_001360.1:p.Tyr4165His
ENST00000265104.5:c.12493T>C MANE Select	ENSP00000265104.4:p.Tyr4165His
NM_001369.2:c.12493T>C	NP_001360.1:p.Tyr4165His
ENST00000265104.4:c.12493T>C	ENSP00000265104.4:p.Tyr4165His
ENST00000681290.1:c.12448T>C	ENSP00000505288.1:p.Tyr4150His
XM_005248262.2:c.12448T>C	XP_005248319.1:p.Tyr4150His
XM_005248262.3:c.12601T>C	XP_005248319.2:p.Tyr4201His
XM_017009177.1:c.12601T>C	XP_016864666.1:p.Tyr4201His
XM_017009178.1:c.11506T>C	XP_016864667.1:p.Tyr3836His
XM_017009179.2:c.11506T>C	XP_016864668.1:p.Tyr3836His
XM_017009180.1:c.12601T>C	XP_016864669.1:p.Tyr4201His
XM_017009185.1:c.7690T>C	XP_016864674.1:p.Tyr2564His
XM_017009186.1:c.7243T>C	XP_016864675.1:p.Tyr2415His
XM_017009188.1:c.6580T>C	XP_016864677.1:p.Tyr2194His
XM_024454388.1:c.11506T>C	XP_024310156.1:p.Tyr3836His
XM_024454389.1:c.11095T>C	XP_024310157.1:p.Tyr3699His