Canonical Allele Identifier: CA359188773

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692238C>A (hg19) ; chr5:g.13692129C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692129C>A , CM000667.2:g.13692129C>A	GRCh38
NC_000005.9:g.13692238C>A , CM000667.1:g.13692238C>A	GRCh37
NC_000005.8:g.13745238C>A	NCBI36
NG_013081.1:g.257352G>T
NG_013081.2:g.257352G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1063G>T
ENST00000265104.5:c.13730G>T MANE Select	ENSP00000265104.4:p.Arg4577Leu
ENST00000681290.1:c.13685G>T	ENSP00000505288.1:p.Arg4562Leu
ENST00000265104.4:c.13730G>T	ENSP00000265104.4:p.Arg4577Leu
NM_001369.2:c.13730G>T	NP_001360.1:p.Arg4577Leu
XM_005248262.2:c.13685G>T	XP_005248319.1:p.Arg4562Leu
XM_005248262.3:c.13838G>T	XP_005248319.2:p.Arg4613Leu
XM_017009177.1:c.13418G>T	XP_016864666.1:p.Arg4473Leu
XM_017009178.1:c.12743G>T	XP_016864667.1:p.Arg4248Leu
XM_017009179.2:c.12743G>T	XP_016864668.1:p.Arg4248Leu
XM_017009185.1:c.8927G>T	XP_016864674.1:p.Arg2976Leu
XM_017009186.1:c.8480G>T	XP_016864675.1:p.Arg2827Leu
XM_017009188.1:c.7817G>T	XP_016864677.1:p.Arg2606Leu
XM_024454388.1:c.12743G>T	XP_024310156.1:p.Arg4248Leu
XM_024454389.1:c.12332G>T	XP_024310157.1:p.Arg4111Leu
NM_001369.3:c.13730G>T MANE Select	NP_001360.1:p.Arg4577Leu