Canonical Allele Identifier: CA443251305

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13708249-G-A
• MyVariant Identifiers: chr5:g.13708358G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708249G>A , CM000667.2:g.13708249G>A	GRCh38
NC_000005.9:g.13708358G>A , CM000667.1:g.13708358G>A	GRCh37
NC_000005.8:g.13761358G>A	NCBI36
NG_013081.1:g.241232C>T
NG_013081.2:g.241232C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.545C>T
ENST00000265104.5:c.13212C>T MANE Select	ENSP00000265104.4:p.Leu4404=
ENST00000681290.1:c.13167C>T	ENSP00000505288.1:p.Leu4389=
ENST00000265104.4:c.13212C>T	ENSP00000265104.4:p.Leu4404=
NM_001369.2:c.13212C>T	NP_001360.1:p.Leu4404=
XM_005248262.2:c.13167C>T	XP_005248319.1:p.Leu4389=
XM_005248262.3:c.13320C>T	XP_005248319.2:p.Leu4440=
XM_017009177.1:c.12900C>T	XP_016864666.1:p.Leu4300=
XM_017009178.1:c.12225C>T	XP_016864667.1:p.Leu4075=
XM_017009179.2:c.12225C>T	XP_016864668.1:p.Leu4075=
XM_017009185.1:c.8409C>T	XP_016864674.1:p.Leu2803=
XM_017009186.1:c.7962C>T	XP_016864675.1:p.Leu2654=
XM_017009188.1:c.7299C>T	XP_016864677.1:p.Leu2433=
XM_024454388.1:c.12225C>T	XP_024310156.1:p.Leu4075=
XM_024454389.1:c.11814C>T	XP_024310157.1:p.Leu3938=
NM_001369.3:c.13212C>T MANE Select	NP_001360.1:p.Leu4404=