Canonical Allele Identifier: CA359197184

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13708233-T-C
• MyVariant Identifiers: chr5:g.13708342T>C (hg19) ; chr5:g.13708233T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708233T>C , CM000667.2:g.13708233T>C	GRCh38
NC_000005.9:g.13708342T>C , CM000667.1:g.13708342T>C	GRCh37
NC_000005.8:g.13761342T>C	NCBI36
NG_013081.1:g.241248A>G
NG_013081.2:g.241248A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.561A>G
ENST00000265104.5:c.13228A>G MANE Select	ENSP00000265104.4:p.Thr4410Ala
ENST00000681290.1:c.13183A>G	ENSP00000505288.1:p.Thr4395Ala
ENST00000265104.4:c.13228A>G	ENSP00000265104.4:p.Thr4410Ala
NM_001369.2:c.13228A>G	NP_001360.1:p.Thr4410Ala
XM_005248262.2:c.13183A>G	XP_005248319.1:p.Thr4395Ala
XM_005248262.3:c.13336A>G	XP_005248319.2:p.Thr4446Ala
XM_017009177.1:c.12916A>G	XP_016864666.1:p.Thr4306Ala
XM_017009178.1:c.12241A>G	XP_016864667.1:p.Thr4081Ala
XM_017009179.2:c.12241A>G	XP_016864668.1:p.Thr4081Ala
XM_017009185.1:c.8425A>G	XP_016864674.1:p.Thr2809Ala
XM_017009186.1:c.7978A>G	XP_016864675.1:p.Thr2660Ala
XM_017009188.1:c.7315A>G	XP_016864677.1:p.Thr2439Ala
XM_024454388.1:c.12241A>G	XP_024310156.1:p.Thr4081Ala
XM_024454389.1:c.11830A>G	XP_024310157.1:p.Thr3944Ala
NM_001369.3:c.13228A>G MANE Select	NP_001360.1:p.Thr4410Ala