Canonical Allele Identifier: CA1528430322

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13768962G= , CM000667.2:g.13768962G=	GRCh38
NC_000005.9:g.13769071G= , CM000667.1:g.13769071G=	GRCh37
NC_000005.8:g.13822071G=	NCBI36
NG_013081.1:g.180519C=
NG_013081.2:g.180519C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9895C= MANE Select	ENSP00000265104.4:p.Gln3299=
ENST00000681290.1:c.9850C=	ENSP00000505288.1:p.Gln3284=
ENST00000265104.4:c.9895C=	ENSP00000265104.4:p.Gln3299=
ENST00000504001.3:n.607C=
NM_001369.2:c.9895C=	NP_001360.1:p.Gln3299=
XM_005248262.2:c.9850C=	XP_005248319.1:p.Gln3284=
XM_005248262.3:c.10003C=	XP_005248319.2:p.Gln3335=
XM_017009177.1:c.10003C=	XP_016864666.1:p.Gln3335=
XM_017009178.1:c.8908C=	XP_016864667.1:p.Gln2970=
XM_017009179.2:c.8908C=	XP_016864668.1:p.Gln2970=
XM_017009180.1:c.10003C=	XP_016864669.1:p.Gln3335=
XM_017009181.1:c.10003C=	XP_016864670.1:p.Gln3335=
XM_017009182.1:c.10003C=	XP_016864671.1:p.Gln3335=
XM_017009185.1:c.5092C=	XP_016864674.1:p.Gln1698=
XM_017009186.1:c.4645C=	XP_016864675.1:p.Gln1549=
XM_017009188.1:c.3982C=	XP_016864677.1:p.Gln1328=
XM_024454388.1:c.8908C=	XP_024310156.1:p.Gln2970=
XM_024454389.1:c.8497C=	XP_024310157.1:p.Gln2833=
NM_001369.3:c.9895C= MANE Select	NP_001360.1:p.Gln3299=