Canonical Allele Identifier: CA359226336

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13737318G>A , CM000667.2:g.13737318G>A	GRCh38
NC_000005.9:g.13737427G>A , CM000667.1:g.13737427G>A	GRCh37
NC_000005.8:g.13790427G>A	NCBI36
NG_013081.1:g.212163C>T
NG_013081.2:g.212163C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11389C>T MANE Select	NP_001360.1:p.Gln3797Ter
ENST00000265104.5:c.11389C>T MANE Select	ENSP00000265104.4:p.Gln3797Ter
NM_001369.2:c.11389C>T	NP_001360.1:p.Gln3797Ter
ENST00000265104.4:c.11389C>T	ENSP00000265104.4:p.Gln3797Ter
ENST00000681290.1:c.11344C>T	ENSP00000505288.1:p.Gln3782Ter
XM_005248262.2:c.11344C>T	XP_005248319.1:p.Gln3782Ter
XM_005248262.3:c.11497C>T	XP_005248319.2:p.Gln3833Ter
XM_017009177.1:c.11497C>T	XP_016864666.1:p.Gln3833Ter
XM_017009178.1:c.10402C>T	XP_016864667.1:p.Gln3468Ter
XM_017009179.2:c.10402C>T	XP_016864668.1:p.Gln3468Ter
XM_017009180.1:c.11497C>T	XP_016864669.1:p.Gln3833Ter
XM_017009181.1:c.11497C>T	XP_016864670.1:p.Gln3833Ter
XM_017009182.1:c.11320-1386C>T	XP_016864671.1:n.11320-1386C>T
XM_017009185.1:c.6586C>T	XP_016864674.1:p.Gln2196Ter
XM_017009186.1:c.6139C>T	XP_016864675.1:p.Gln2047Ter
XM_017009188.1:c.5476C>T	XP_016864677.1:p.Gln1826Ter
XM_024454388.1:c.10402C>T	XP_024310156.1:p.Gln3468Ter
XM_024454389.1:c.9991C>T	XP_024310157.1:p.Gln3331Ter