Canonical Allele Identifier: CA359214701

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13914518A>G , CM000667.2:g.13914518A>G	GRCh38
NC_000005.9:g.13914627A>G , CM000667.1:g.13914627A>G	GRCh37
NC_000005.8:g.13967627A>G	NCBI36
NG_013081.1:g.34963T>C
NG_013081.2:g.34963T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.1320+2T>C MANE Select	NP_001360.1:n.1320+2T>C
ENST00000265104.5:c.1320+2T>C MANE Select	ENSP00000265104.4:n.1320+2T>C
NM_001369.2:c.1320+2T>C	NP_001360.1:n.1320+2T>C
ENST00000265104.4:c.1320+2T>C	ENSP00000265104.4:n.1320+2T>C
ENST00000508040.1:n.1728+2T>C
ENST00000680213.1:c.1080+2T>C	ENSP00000506622.1:n.1080+2T>C
ENST00000680213.2:n.1376+2T>C
ENST00000681290.1:c.1275+2T>C	ENSP00000505288.1:n.1275+2T>C
ENST00000682376.1:n.4990T>C
ENST00000683011.1:n.1259+2T>C
ENST00000683967.1:n.3126T>C
ENST00000684013.1:n.1421T>C
ENST00000684099.1:n.1417T>C
XM_005248262.2:c.1275+2T>C	XP_005248319.1:n.1275+2T>C
XM_005248262.3:c.1428+2T>C	XP_005248319.2:n.1428+2T>C
XM_011513990.1:c.1320+2T>C	XP_011512292.1:n.1320+2T>C
XM_017009177.1:c.1428+2T>C	XP_016864666.1:n.1428+2T>C
XM_017009178.1:c.333+2T>C	XP_016864667.1:n.333+2T>C
XM_017009179.2:c.333+2T>C	XP_016864668.1:n.333+2T>C
XM_017009180.1:c.1428+2T>C	XP_016864669.1:n.1428+2T>C
XM_017009181.1:c.1428+2T>C	XP_016864670.1:n.1428+2T>C
XM_017009182.1:c.1428+2T>C	XP_016864671.1:n.1428+2T>C
XM_017009183.1:c.1428+2T>C	XP_016864672.1:n.1428+2T>C
XM_017009184.1:c.1428+2T>C	XP_016864673.1:n.1428+2T>C
XM_017009187.1:c.1428+2T>C	XP_016864676.1:n.1428+2T>C
XM_024454388.1:c.333+2T>C	XP_024310156.1:n.333+2T>C
XM_024454389.1:c.-638T>C	XP_024310157.1:n.-638T>C
XR_001742034.1:n.1445+2T>C
XR_001742035.1:n.1445+2T>C
XR_925598.1:n.1527+2T>C