Canonical Allele Identifier: CA3202250

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13758860T>C , CM000667.2:g.13758860T>C	GRCh38
NC_000005.9:g.13758969T>C , CM000667.1:g.13758969T>C	GRCh37
NC_000005.8:g.13811969T>C	NCBI36
NG_013081.1:g.190621A>G
NG_013081.2:g.190621A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.10405A>G MANE Select	NP_001360.1:p.Met3469Val
ENST00000265104.5:c.10405A>G MANE Select	ENSP00000265104.4:p.Met3469Val
NM_001369.2:c.10405A>G	NP_001360.1:p.Met3469Val
ENST00000265104.4:c.10405A>G	ENSP00000265104.4:p.Met3469Val
ENST00000681290.1:c.10360A>G	ENSP00000505288.1:p.Met3454Val
XM_005248262.2:c.10360A>G	XP_005248319.1:p.Met3454Val
XM_005248262.3:c.10513A>G	XP_005248319.2:p.Met3505Val
XM_017009177.1:c.10513A>G	XP_016864666.1:p.Met3505Val
XM_017009178.1:c.9418A>G	XP_016864667.1:p.Met3140Val
XM_017009179.2:c.9418A>G	XP_016864668.1:p.Met3140Val
XM_017009180.1:c.10513A>G	XP_016864669.1:p.Met3505Val
XM_017009181.1:c.10513A>G	XP_016864670.1:p.Met3505Val
XM_017009182.1:c.10513A>G	XP_016864671.1:p.Met3505Val
XM_017009185.1:c.5602A>G	XP_016864674.1:p.Met1868Val
XM_017009186.1:c.5155A>G	XP_016864675.1:p.Met1719Val
XM_017009188.1:c.4492A>G	XP_016864677.1:p.Met1498Val
XM_024454388.1:c.9418A>G	XP_024310156.1:p.Met3140Val
XM_024454389.1:c.9007A>G	XP_024310157.1:p.Met3003Val