Canonical Allele Identifier: CA359197110

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13708227-T-C
• MyVariant Identifiers: chr5:g.13708336T>C (hg19) ; chr5:g.13708227T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708227T>C , CM000667.2:g.13708227T>C	GRCh38
NC_000005.9:g.13708336T>C , CM000667.1:g.13708336T>C	GRCh37
NC_000005.8:g.13761336T>C	NCBI36
NG_013081.1:g.241254A>G
NG_013081.2:g.241254A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.567A>G
ENST00000265104.5:c.13234A>G MANE Select	ENSP00000265104.4:p.Thr4412Ala
ENST00000681290.1:c.13189A>G	ENSP00000505288.1:p.Thr4397Ala
ENST00000265104.4:c.13234A>G	ENSP00000265104.4:p.Thr4412Ala
NM_001369.2:c.13234A>G	NP_001360.1:p.Thr4412Ala
XM_005248262.2:c.13189A>G	XP_005248319.1:p.Thr4397Ala
XM_005248262.3:c.13342A>G	XP_005248319.2:p.Thr4448Ala
XM_017009177.1:c.12922A>G	XP_016864666.1:p.Thr4308Ala
XM_017009178.1:c.12247A>G	XP_016864667.1:p.Thr4083Ala
XM_017009179.2:c.12247A>G	XP_016864668.1:p.Thr4083Ala
XM_017009185.1:c.8431A>G	XP_016864674.1:p.Thr2811Ala
XM_017009186.1:c.7984A>G	XP_016864675.1:p.Thr2662Ala
XM_017009188.1:c.7321A>G	XP_016864677.1:p.Thr2441Ala
XM_024454388.1:c.12247A>G	XP_024310156.1:p.Thr4083Ala
XM_024454389.1:c.11836A>G	XP_024310157.1:p.Thr3946Ala
NM_001369.3:c.13234A>G MANE Select	NP_001360.1:p.Thr4412Ala