Canonical Allele Identifier: CA359191630

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753502G>C (hg19) ; chr5:g.13753393G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753393G>C , CM000667.2:g.13753393G>C	GRCh38
NC_000005.9:g.13753502G>C , CM000667.1:g.13753502G>C	GRCh37
NC_000005.8:g.13806502G>C	NCBI36
NG_013081.1:g.196088C>G
NG_013081.2:g.196088C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10712C>G MANE Select	ENSP00000265104.4:p.Pro3571Arg
ENST00000681290.1:c.10667C>G	ENSP00000505288.1:p.Pro3556Arg
ENST00000265104.4:c.10712C>G	ENSP00000265104.4:p.Pro3571Arg
NM_001369.2:c.10712C>G	NP_001360.1:p.Pro3571Arg
XM_005248262.2:c.10667C>G	XP_005248319.1:p.Pro3556Arg
XM_005248262.3:c.10820C>G	XP_005248319.2:p.Pro3607Arg
XM_017009177.1:c.10820C>G	XP_016864666.1:p.Pro3607Arg
XM_017009178.1:c.9725C>G	XP_016864667.1:p.Pro3242Arg
XM_017009179.2:c.9725C>G	XP_016864668.1:p.Pro3242Arg
XM_017009180.1:c.10820C>G	XP_016864669.1:p.Pro3607Arg
XM_017009181.1:c.10820C>G	XP_016864670.1:p.Pro3607Arg
XM_017009182.1:c.10820C>G	XP_016864671.1:p.Pro3607Arg
XM_017009185.1:c.5909C>G	XP_016864674.1:p.Pro1970Arg
XM_017009186.1:c.5462C>G	XP_016864675.1:p.Pro1821Arg
XM_017009188.1:c.4799C>G	XP_016864677.1:p.Pro1600Arg
XM_024454388.1:c.9725C>G	XP_024310156.1:p.Pro3242Arg
XM_024454389.1:c.9314C>G	XP_024310157.1:p.Pro3105Arg
NM_001369.3:c.10712C>G MANE Select	NP_001360.1:p.Pro3571Arg