Canonical Allele Identifier: CA359190562

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13752395T>C (hg19) ; chr5:g.13752286T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752286T>C , CM000667.2:g.13752286T>C	GRCh38
NC_000005.9:g.13752395T>C , CM000667.1:g.13752395T>C	GRCh37
NC_000005.8:g.13805395T>C	NCBI36
NG_013081.1:g.197195A>G
NG_013081.2:g.197195A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10876A>G MANE Select	ENSP00000265104.4:p.Thr3626Ala
ENST00000681290.1:c.10831A>G	ENSP00000505288.1:p.Thr3611Ala
ENST00000265104.4:c.10876A>G	ENSP00000265104.4:p.Thr3626Ala
NM_001369.2:c.10876A>G	NP_001360.1:p.Thr3626Ala
XM_005248262.2:c.10831A>G	XP_005248319.1:p.Thr3611Ala
XM_005248262.3:c.10984A>G	XP_005248319.2:p.Thr3662Ala
XM_017009177.1:c.10984A>G	XP_016864666.1:p.Thr3662Ala
XM_017009178.1:c.9889A>G	XP_016864667.1:p.Thr3297Ala
XM_017009179.2:c.9889A>G	XP_016864668.1:p.Thr3297Ala
XM_017009180.1:c.10984A>G	XP_016864669.1:p.Thr3662Ala
XM_017009181.1:c.10984A>G	XP_016864670.1:p.Thr3662Ala
XM_017009182.1:c.10984A>G	XP_016864671.1:p.Thr3662Ala
XM_017009185.1:c.6073A>G	XP_016864674.1:p.Thr2025Ala
XM_017009186.1:c.5626A>G	XP_016864675.1:p.Thr1876Ala
XM_017009188.1:c.4963A>G	XP_016864677.1:p.Thr1655Ala
XM_024454388.1:c.9889A>G	XP_024310156.1:p.Thr3297Ala
XM_024454389.1:c.9478A>G	XP_024310157.1:p.Thr3160Ala
NM_001369.3:c.10876A>G MANE Select	NP_001360.1:p.Thr3626Ala