Canonical Allele Identifier: CA359190200

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13752331A>C (hg19) ; chr5:g.13752222A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752222A>C , CM000667.2:g.13752222A>C	GRCh38
NC_000005.9:g.13752331A>C , CM000667.1:g.13752331A>C	GRCh37
NC_000005.8:g.13805331A>C	NCBI36
NG_013081.1:g.197259T>G
NG_013081.2:g.197259T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10940T>G MANE Select	ENSP00000265104.4:p.Leu3647Trp
ENST00000681290.1:c.10895T>G	ENSP00000505288.1:p.Leu3632Trp
ENST00000265104.4:c.10940T>G	ENSP00000265104.4:p.Leu3647Trp
NM_001369.2:c.10940T>G	NP_001360.1:p.Leu3647Trp
XM_005248262.2:c.10895T>G	XP_005248319.1:p.Leu3632Trp
XM_005248262.3:c.11048T>G	XP_005248319.2:p.Leu3683Trp
XM_017009177.1:c.11048T>G	XP_016864666.1:p.Leu3683Trp
XM_017009178.1:c.9953T>G	XP_016864667.1:p.Leu3318Trp
XM_017009179.2:c.9953T>G	XP_016864668.1:p.Leu3318Trp
XM_017009180.1:c.11048T>G	XP_016864669.1:p.Leu3683Trp
XM_017009181.1:c.11048T>G	XP_016864670.1:p.Leu3683Trp
XM_017009182.1:c.11048T>G	XP_016864671.1:p.Leu3683Trp
XM_017009185.1:c.6137T>G	XP_016864674.1:p.Leu2046Trp
XM_017009186.1:c.5690T>G	XP_016864675.1:p.Leu1897Trp
XM_017009188.1:c.5027T>G	XP_016864677.1:p.Leu1676Trp
XM_024454388.1:c.9953T>G	XP_024310156.1:p.Leu3318Trp
XM_024454389.1:c.9542T>G	XP_024310157.1:p.Leu3181Trp
NM_001369.3:c.10940T>G MANE Select	NP_001360.1:p.Leu3647Trp