Canonical Allele Identifier: CA359201303

Gene: DNAH5

Linked Data

• dbSNP Id: rs1580139539
• gnomAD v3: 5-13768974-C-T
• gnomAD v4: 5-13768974-C-T
• MyVariant Identifiers: chr5:g.13769083C>T (hg19) ; chr5:g.13768974C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13768974C>T , CM000667.2:g.13768974C>T	GRCh38
NC_000005.9:g.13769083C>T , CM000667.1:g.13769083C>T	GRCh37
NC_000005.8:g.13822083C>T	NCBI36
NG_013081.1:g.180507G>A
NG_013081.2:g.180507G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9883G>A MANE Select	ENSP00000265104.4:p.Glu3295Lys
ENST00000681290.1:c.9838G>A	ENSP00000505288.1:p.Glu3280Lys
ENST00000265104.4:c.9883G>A	ENSP00000265104.4:p.Glu3295Lys
ENST00000504001.3:n.595G>A
NM_001369.2:c.9883G>A	NP_001360.1:p.Glu3295Lys
XM_005248262.2:c.9838G>A	XP_005248319.1:p.Glu3280Lys
XM_005248262.3:c.9991G>A	XP_005248319.2:p.Glu3331Lys
XM_017009177.1:c.9991G>A	XP_016864666.1:p.Glu3331Lys
XM_017009178.1:c.8896G>A	XP_016864667.1:p.Glu2966Lys
XM_017009179.2:c.8896G>A	XP_016864668.1:p.Glu2966Lys
XM_017009180.1:c.9991G>A	XP_016864669.1:p.Glu3331Lys
XM_017009181.1:c.9991G>A	XP_016864670.1:p.Glu3331Lys
XM_017009182.1:c.9991G>A	XP_016864671.1:p.Glu3331Lys
XM_017009185.1:c.5080G>A	XP_016864674.1:p.Glu1694Lys
XM_017009186.1:c.4633G>A	XP_016864675.1:p.Glu1545Lys
XM_017009188.1:c.3970G>A	XP_016864677.1:p.Glu1324Lys
XM_024454388.1:c.8896G>A	XP_024310156.1:p.Glu2966Lys
XM_024454389.1:c.8485G>A	XP_024310157.1:p.Glu2829Lys
NM_001369.3:c.9883G>A MANE Select	NP_001360.1:p.Glu3295Lys