Canonical Allele Identifier: CA359197380

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708360G>T (hg19) ; chr5:g.13708251G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708251G>T , CM000667.2:g.13708251G>T	GRCh38
NC_000005.9:g.13708360G>T , CM000667.1:g.13708360G>T	GRCh37
NC_000005.8:g.13761360G>T	NCBI36
NG_013081.1:g.241230C>A
NG_013081.2:g.241230C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.543C>A
ENST00000265104.5:c.13210C>A MANE Select	ENSP00000265104.4:p.Leu4404Ile
ENST00000681290.1:c.13165C>A	ENSP00000505288.1:p.Leu4389Ile
ENST00000265104.4:c.13210C>A	ENSP00000265104.4:p.Leu4404Ile
NM_001369.2:c.13210C>A	NP_001360.1:p.Leu4404Ile
XM_005248262.2:c.13165C>A	XP_005248319.1:p.Leu4389Ile
XM_005248262.3:c.13318C>A	XP_005248319.2:p.Leu4440Ile
XM_017009177.1:c.12898C>A	XP_016864666.1:p.Leu4300Ile
XM_017009178.1:c.12223C>A	XP_016864667.1:p.Leu4075Ile
XM_017009179.2:c.12223C>A	XP_016864668.1:p.Leu4075Ile
XM_017009185.1:c.8407C>A	XP_016864674.1:p.Leu2803Ile
XM_017009186.1:c.7960C>A	XP_016864675.1:p.Leu2654Ile
XM_017009188.1:c.7297C>A	XP_016864677.1:p.Leu2433Ile
XM_024454388.1:c.12223C>A	XP_024310156.1:p.Leu4075Ile
XM_024454389.1:c.11812C>A	XP_024310157.1:p.Leu3938Ile
NM_001369.3:c.13210C>A MANE Select	NP_001360.1:p.Leu4404Ile