Canonical Allele Identifier: CA359218211

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13788914C>A , CM000667.2:g.13788914C>A	GRCh38
NC_000005.9:g.13789023C>A , CM000667.1:g.13789023C>A	GRCh37
NC_000005.8:g.13842023C>A	NCBI36
NG_013081.1:g.160567G>T
NG_013081.2:g.160567G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.8449G>T MANE Select	NP_001360.1:p.Asp2817Tyr
ENST00000265104.5:c.8449G>T MANE Select	ENSP00000265104.4:p.Asp2817Tyr
NM_001369.2:c.8449G>T	NP_001360.1:p.Asp2817Tyr
ENST00000265104.4:c.8449G>T	ENSP00000265104.4:p.Asp2817Tyr
ENST00000681290.1:c.8404G>T	ENSP00000505288.1:p.Asp2802Tyr
XM_005248262.2:c.8404G>T	XP_005248319.1:p.Asp2802Tyr
XM_005248262.3:c.8557G>T	XP_005248319.2:p.Asp2853Tyr
XM_011513990.1:c.8449G>T	XP_011512292.1:p.Asp2817Tyr
XM_017009177.1:c.8557G>T	XP_016864666.1:p.Asp2853Tyr
XM_017009178.1:c.7462G>T	XP_016864667.1:p.Asp2488Tyr
XM_017009179.2:c.7462G>T	XP_016864668.1:p.Asp2488Tyr
XM_017009180.1:c.8557G>T	XP_016864669.1:p.Asp2853Tyr
XM_017009181.1:c.8557G>T	XP_016864670.1:p.Asp2853Tyr
XM_017009182.1:c.8557G>T	XP_016864671.1:p.Asp2853Tyr
XM_017009183.1:c.8557G>T	XP_016864672.1:p.Asp2853Tyr
XM_017009184.1:c.8557G>T	XP_016864673.1:p.Asp2853Tyr
XM_017009185.1:c.3646G>T	XP_016864674.1:p.Asp1216Tyr
XM_017009186.1:c.3199G>T	XP_016864675.1:p.Asp1067Tyr
XM_017009188.1:c.2536G>T	XP_016864677.1:p.Asp846Tyr
XM_024454388.1:c.7462G>T	XP_024310156.1:p.Asp2488Tyr
XM_024454389.1:c.7051G>T	XP_024310157.1:p.Asp2351Tyr
XR_001742034.1:n.8574G>T
XR_001742035.1:n.8574G>T
XR_925598.1:n.8656G>T