Canonical Allele Identifier: CA359201574

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 906487
• ClinVar RCV Id: RCV001155684
• dbSNP Id: rs1752912351
• gnomAD v4: 5-13769007-G-T
• MyVariant Identifiers: chr5:g.13769116G>T (hg19) ; chr5:g.13769007G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769007G>T , CM000667.2:g.13769007G>T	GRCh38
NC_000005.9:g.13769116G>T , CM000667.1:g.13769116G>T	GRCh37
NC_000005.8:g.13822116G>T	NCBI36
NG_013081.1:g.180474C>A
NG_013081.2:g.180474C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9850C>A MANE Select	ENSP00000265104.4:p.Leu3284Met
ENST00000681290.1:c.9805C>A	ENSP00000505288.1:p.Leu3269Met
ENST00000265104.4:c.9850C>A	ENSP00000265104.4:p.Leu3284Met
ENST00000504001.3:n.562C>A
NM_001369.2:c.9850C>A	NP_001360.1:p.Leu3284Met
XM_005248262.2:c.9805C>A	XP_005248319.1:p.Leu3269Met
XM_005248262.3:c.9958C>A	XP_005248319.2:p.Leu3320Met
XM_017009177.1:c.9958C>A	XP_016864666.1:p.Leu3320Met
XM_017009178.1:c.8863C>A	XP_016864667.1:p.Leu2955Met
XM_017009179.2:c.8863C>A	XP_016864668.1:p.Leu2955Met
XM_017009180.1:c.9958C>A	XP_016864669.1:p.Leu3320Met
XM_017009181.1:c.9958C>A	XP_016864670.1:p.Leu3320Met
XM_017009182.1:c.9958C>A	XP_016864671.1:p.Leu3320Met
XM_017009185.1:c.5047C>A	XP_016864674.1:p.Leu1683Met
XM_017009186.1:c.4600C>A	XP_016864675.1:p.Leu1534Met
XM_017009188.1:c.3937C>A	XP_016864677.1:p.Leu1313Met
XM_024454388.1:c.8863C>A	XP_024310156.1:p.Leu2955Met
XM_024454389.1:c.8452C>A	XP_024310157.1:p.Leu2818Met
NM_001369.3:c.9850C>A MANE Select	NP_001360.1:p.Leu3284Met