Canonical Allele Identifier: CA359201694

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13769127G>T (hg19) ; chr5:g.13769018G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769018G>T , CM000667.2:g.13769018G>T	GRCh38
NC_000005.9:g.13769127G>T , CM000667.1:g.13769127G>T	GRCh37
NC_000005.8:g.13822127G>T	NCBI36
NG_013081.1:g.180463C>A
NG_013081.2:g.180463C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9839C>A MANE Select	ENSP00000265104.4:p.Ala3280Asp
ENST00000681290.1:c.9794C>A	ENSP00000505288.1:p.Ala3265Asp
ENST00000265104.4:c.9839C>A	ENSP00000265104.4:p.Ala3280Asp
ENST00000504001.3:n.551C>A
NM_001369.2:c.9839C>A	NP_001360.1:p.Ala3280Asp
XM_005248262.2:c.9794C>A	XP_005248319.1:p.Ala3265Asp
XM_005248262.3:c.9947C>A	XP_005248319.2:p.Ala3316Asp
XM_017009177.1:c.9947C>A	XP_016864666.1:p.Ala3316Asp
XM_017009178.1:c.8852C>A	XP_016864667.1:p.Ala2951Asp
XM_017009179.2:c.8852C>A	XP_016864668.1:p.Ala2951Asp
XM_017009180.1:c.9947C>A	XP_016864669.1:p.Ala3316Asp
XM_017009181.1:c.9947C>A	XP_016864670.1:p.Ala3316Asp
XM_017009182.1:c.9947C>A	XP_016864671.1:p.Ala3316Asp
XM_017009185.1:c.5036C>A	XP_016864674.1:p.Ala1679Asp
XM_017009186.1:c.4589C>A	XP_016864675.1:p.Ala1530Asp
XM_017009188.1:c.3926C>A	XP_016864677.1:p.Ala1309Asp
XM_024454388.1:c.8852C>A	XP_024310156.1:p.Ala2951Asp
XM_024454389.1:c.8441C>A	XP_024310157.1:p.Ala2814Asp
NM_001369.3:c.9839C>A MANE Select	NP_001360.1:p.Ala3280Asp