Canonical Allele Identifier: CA359225271

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13736029C>T (hg19) ; chr5:g.13735920C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735920C>T , CM000667.2:g.13735920C>T	GRCh38
NC_000005.9:g.13736029C>T , CM000667.1:g.13736029C>T	GRCh37
NC_000005.8:g.13789029C>T	NCBI36
NG_013081.1:g.213561G>A
NG_013081.2:g.213561G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11468G>A MANE Select	ENSP00000265104.4:p.Gly3823Asp
ENST00000681290.1:c.11423G>A	ENSP00000505288.1:p.Gly3808Asp
ENST00000265104.4:c.11468G>A	ENSP00000265104.4:p.Gly3823Asp
NM_001369.2:c.11468G>A	NP_001360.1:p.Gly3823Asp
XM_005248262.2:c.11423G>A	XP_005248319.1:p.Gly3808Asp
XM_005248262.3:c.11576G>A	XP_005248319.2:p.Gly3859Asp
XM_017009177.1:c.11576G>A	XP_016864666.1:p.Gly3859Asp
XM_017009178.1:c.10481G>A	XP_016864667.1:p.Gly3494Asp
XM_017009179.2:c.10481G>A	XP_016864668.1:p.Gly3494Asp
XM_017009180.1:c.11576G>A	XP_016864669.1:p.Gly3859Asp
XM_017009181.1:c.11576G>A	XP_016864670.1:p.Gly3859Asp
XM_017009182.1:c.11332G>A	XP_016864671.1:p.Ala3778Thr
XM_017009185.1:c.6665G>A	XP_016864674.1:p.Gly2222Asp
XM_017009186.1:c.6218G>A	XP_016864675.1:p.Gly2073Asp
XM_017009188.1:c.5555G>A	XP_016864677.1:p.Gly1852Asp
XM_024454388.1:c.10481G>A	XP_024310156.1:p.Gly3494Asp
XM_024454389.1:c.10070G>A	XP_024310157.1:p.Gly3357Asp
NM_001369.3:c.11468G>A MANE Select	NP_001360.1:p.Gly3823Asp