Canonical Allele Identifier: CA359192267

Gene: DNAH5

Linked Data

• COSMIC: COSM5026268
• MyVariant Identifiers: chr5:g.13753628G>C (hg19) ; chr5:g.13753519G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753519G>C , CM000667.2:g.13753519G>C	GRCh38
NC_000005.9:g.13753628G>C , CM000667.1:g.13753628G>C	GRCh37
NC_000005.8:g.13806628G>C	NCBI36
NG_013081.1:g.195962C>G
NG_013081.2:g.195962C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10586C>G MANE Select	ENSP00000265104.4:p.Ser3529Cys
ENST00000681290.1:c.10541C>G	ENSP00000505288.1:p.Ser3514Cys
ENST00000265104.4:c.10586C>G	ENSP00000265104.4:p.Ser3529Cys
NM_001369.2:c.10586C>G	NP_001360.1:p.Ser3529Cys
XM_005248262.2:c.10541C>G	XP_005248319.1:p.Ser3514Cys
XM_005248262.3:c.10694C>G	XP_005248319.2:p.Ser3565Cys
XM_017009177.1:c.10694C>G	XP_016864666.1:p.Ser3565Cys
XM_017009178.1:c.9599C>G	XP_016864667.1:p.Ser3200Cys
XM_017009179.2:c.9599C>G	XP_016864668.1:p.Ser3200Cys
XM_017009180.1:c.10694C>G	XP_016864669.1:p.Ser3565Cys
XM_017009181.1:c.10694C>G	XP_016864670.1:p.Ser3565Cys
XM_017009182.1:c.10694C>G	XP_016864671.1:p.Ser3565Cys
XM_017009185.1:c.5783C>G	XP_016864674.1:p.Ser1928Cys
XM_017009186.1:c.5336C>G	XP_016864675.1:p.Ser1779Cys
XM_017009188.1:c.4673C>G	XP_016864677.1:p.Ser1558Cys
XM_024454388.1:c.9599C>G	XP_024310156.1:p.Ser3200Cys
XM_024454389.1:c.9188C>G	XP_024310157.1:p.Ser3063Cys
NM_001369.3:c.10586C>G MANE Select	NP_001360.1:p.Ser3529Cys