Canonical Allele Identifier: CA359219342

Gene: DNAH5

Linked Data

• dbSNP Id: rs1757094356
• gnomAD v3: 5-13792120-C-T
• gnomAD v4: 5-13792120-C-T
• MyVariant Identifiers: chr5:g.13792229C>T (hg19) ; chr5:g.13792120C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792120C>T , CM000667.2:g.13792120C>T	GRCh38
NC_000005.9:g.13792229C>T , CM000667.1:g.13792229C>T	GRCh37
NC_000005.8:g.13845229C>T	NCBI36
NG_013081.1:g.157361G>A
NG_013081.2:g.157361G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8322G>A MANE Select	ENSP00000265104.4:p.Trp2774Ter
ENST00000681290.1:c.8277G>A	ENSP00000505288.1:p.Trp2759Ter
ENST00000265104.4:c.8322G>A	ENSP00000265104.4:p.Trp2774Ter
NM_001369.2:c.8322G>A	NP_001360.1:p.Trp2774Ter
XM_005248262.2:c.8277G>A	XP_005248319.1:p.Trp2759Ter
XM_011513990.1:c.8322G>A	XP_011512292.1:p.Trp2774Ter
XR_925598.1:n.8529G>A
XM_005248262.3:c.8430G>A	XP_005248319.2:p.Trp2810Ter
XM_017009177.1:c.8430G>A	XP_016864666.1:p.Trp2810Ter
XM_017009178.1:c.7335G>A	XP_016864667.1:p.Trp2445Ter
XM_017009179.2:c.7335G>A	XP_016864668.1:p.Trp2445Ter
XM_017009180.1:c.8430G>A	XP_016864669.1:p.Trp2810Ter
XM_017009181.1:c.8430G>A	XP_016864670.1:p.Trp2810Ter
XM_017009182.1:c.8430G>A	XP_016864671.1:p.Trp2810Ter
XM_017009183.1:c.8430G>A	XP_016864672.1:p.Trp2810Ter
XM_017009184.1:c.8430G>A	XP_016864673.1:p.Trp2810Ter
XM_017009185.1:c.3519G>A	XP_016864674.1:p.Trp1173Ter
XM_017009186.1:c.3072G>A	XP_016864675.1:p.Trp1024Ter
XM_017009188.1:c.2409G>A	XP_016864677.1:p.Trp803Ter
XM_024454388.1:c.7335G>A	XP_024310156.1:p.Trp2445Ter
XM_024454389.1:c.6924G>A	XP_024310157.1:p.Trp2308Ter
XR_001742034.1:n.8447G>A
XR_001742035.1:n.8447G>A
NM_001369.3:c.8322G>A MANE Select	NP_001360.1:p.Trp2774Ter