Canonical Allele Identifier: CA443251072

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13708165-C-T
• MyVariant Identifiers: chr5:g.13708274C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708165C>T , CM000667.2:g.13708165C>T	GRCh38
NC_000005.9:g.13708274C>T , CM000667.1:g.13708274C>T	GRCh37
NC_000005.8:g.13761274C>T	NCBI36
NG_013081.1:g.241316G>A
NG_013081.2:g.241316G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.629G>A
ENST00000265104.5:c.13296G>A MANE Select	ENSP00000265104.4:p.Leu4432=
ENST00000681290.1:c.13251G>A	ENSP00000505288.1:p.Leu4417=
ENST00000265104.4:c.13296G>A	ENSP00000265104.4:p.Leu4432=
NM_001369.2:c.13296G>A	NP_001360.1:p.Leu4432=
XM_005248262.2:c.13251G>A	XP_005248319.1:p.Leu4417=
XM_005248262.3:c.13404G>A	XP_005248319.2:p.Leu4468=
XM_017009177.1:c.12984G>A	XP_016864666.1:p.Leu4328=
XM_017009178.1:c.12309G>A	XP_016864667.1:p.Leu4103=
XM_017009179.2:c.12309G>A	XP_016864668.1:p.Leu4103=
XM_017009185.1:c.8493G>A	XP_016864674.1:p.Leu2831=
XM_017009186.1:c.8046G>A	XP_016864675.1:p.Leu2682=
XM_017009188.1:c.7383G>A	XP_016864677.1:p.Leu2461=
XM_024454388.1:c.12309G>A	XP_024310156.1:p.Leu4103=
XM_024454389.1:c.11898G>A	XP_024310157.1:p.Leu3966=
NM_001369.3:c.13296G>A MANE Select	NP_001360.1:p.Leu4432=