Canonical Allele Identifier: CA1528431186

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770793G= , CM000667.2:g.13770793G=	GRCh38
NC_000005.9:g.13770902G= , CM000667.1:g.13770902G=	GRCh37
NC_000005.8:g.13823902G=	NCBI36
NG_013081.1:g.178688C=
NG_013081.2:g.178688C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9561C= MANE Select	ENSP00000265104.4:p.Phe3187=
ENST00000681290.1:c.9516C=	ENSP00000505288.1:p.Phe3172=
ENST00000265104.4:c.9561C=	ENSP00000265104.4:p.Phe3187=
ENST00000504001.3:n.273C=
NM_001369.2:c.9561C=	NP_001360.1:p.Phe3187=
XM_005248262.2:c.9516C=	XP_005248319.1:p.Phe3172=
XM_005248262.3:c.9669C=	XP_005248319.2:p.Phe3223=
XM_017009177.1:c.9669C=	XP_016864666.1:p.Phe3223=
XM_017009178.1:c.8574C=	XP_016864667.1:p.Phe2858=
XM_017009179.2:c.8574C=	XP_016864668.1:p.Phe2858=
XM_017009180.1:c.9669C=	XP_016864669.1:p.Phe3223=
XM_017009181.1:c.9669C=	XP_016864670.1:p.Phe3223=
XM_017009182.1:c.9669C=	XP_016864671.1:p.Phe3223=
XM_017009183.1:c.9669C=	XP_016864672.1:p.Phe3223=
XM_017009185.1:c.4758C=	XP_016864674.1:p.Phe1586=
XM_017009186.1:c.4311C=	XP_016864675.1:p.Phe1437=
XM_017009188.1:c.3648C=	XP_016864677.1:p.Phe1216=
XM_024454388.1:c.8574C=	XP_024310156.1:p.Phe2858=
XM_024454389.1:c.8163C=	XP_024310157.1:p.Phe2721=
NM_001369.3:c.9561C= MANE Select	NP_001360.1:p.Phe3187=