Canonical Allele Identifier: CA359191488

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753473G>C (hg19) ; chr5:g.13753364G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753364G>C , CM000667.2:g.13753364G>C	GRCh38
NC_000005.9:g.13753473G>C , CM000667.1:g.13753473G>C	GRCh37
NC_000005.8:g.13806473G>C	NCBI36
NG_013081.1:g.196117C>G
NG_013081.2:g.196117C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10741C>G MANE Select	ENSP00000265104.4:p.Leu3581Val
ENST00000681290.1:c.10696C>G	ENSP00000505288.1:p.Leu3566Val
ENST00000265104.4:c.10741C>G	ENSP00000265104.4:p.Leu3581Val
NM_001369.2:c.10741C>G	NP_001360.1:p.Leu3581Val
XM_005248262.2:c.10696C>G	XP_005248319.1:p.Leu3566Val
XM_005248262.3:c.10849C>G	XP_005248319.2:p.Leu3617Val
XM_017009177.1:c.10849C>G	XP_016864666.1:p.Leu3617Val
XM_017009178.1:c.9754C>G	XP_016864667.1:p.Leu3252Val
XM_017009179.2:c.9754C>G	XP_016864668.1:p.Leu3252Val
XM_017009180.1:c.10849C>G	XP_016864669.1:p.Leu3617Val
XM_017009181.1:c.10849C>G	XP_016864670.1:p.Leu3617Val
XM_017009182.1:c.10849C>G	XP_016864671.1:p.Leu3617Val
XM_017009185.1:c.5938C>G	XP_016864674.1:p.Leu1980Val
XM_017009186.1:c.5491C>G	XP_016864675.1:p.Leu1831Val
XM_017009188.1:c.4828C>G	XP_016864677.1:p.Leu1610Val
XM_024454388.1:c.9754C>G	XP_024310156.1:p.Leu3252Val
XM_024454389.1:c.9343C>G	XP_024310157.1:p.Leu3115Val
NM_001369.3:c.10741C>G MANE Select	NP_001360.1:p.Leu3581Val