Canonical Allele Identifier: CA3203408

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1451397
• ClinVar RCV Id: RCV001993242 ; RCV002227290
• dbSNP Id: rs777303718
• ExAC: 5:13829621 G / A
• gnomAD v2: 5-13829621-G-A
• MyVariant Identifiers: chr5:g.13829621G>A (hg19) ; chr5:g.13829512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829512G>A , CM000667.2:g.13829512G>A	GRCh38
NC_000005.9:g.13829621G>A , CM000667.1:g.13829621G>A	GRCh37
NC_000005.8:g.13882621G>A	NCBI36
NG_013081.1:g.119969C>T
NG_013081.2:g.119969C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683090.1:n.1373C>T
ENST00000265104.5:c.6442C>T MANE Select	ENSP00000265104.4:p.Gln2148Ter
ENST00000681290.1:c.6397C>T	ENSP00000505288.1:p.Gln2133Ter
ENST00000265104.4:c.6442C>T	ENSP00000265104.4:p.Gln2148Ter
NM_001369.2:c.6442C>T	NP_001360.1:p.Gln2148Ter
XM_005248262.2:c.6397C>T	XP_005248319.1:p.Gln2133Ter
XM_011513990.1:c.6442C>T	XP_011512292.1:p.Gln2148Ter
XR_925598.1:n.6649C>T
XM_005248262.3:c.6550C>T	XP_005248319.2:p.Gln2184Ter
XM_017009177.1:c.6550C>T	XP_016864666.1:p.Gln2184Ter
XM_017009178.1:c.5455C>T	XP_016864667.1:p.Gln1819Ter
XM_017009179.2:c.5455C>T	XP_016864668.1:p.Gln1819Ter
XM_017009180.1:c.6550C>T	XP_016864669.1:p.Gln2184Ter
XM_017009181.1:c.6550C>T	XP_016864670.1:p.Gln2184Ter
XM_017009182.1:c.6550C>T	XP_016864671.1:p.Gln2184Ter
XM_017009183.1:c.6550C>T	XP_016864672.1:p.Gln2184Ter
XM_017009184.1:c.6550C>T	XP_016864673.1:p.Gln2184Ter
XM_017009185.1:c.1639C>T	XP_016864674.1:p.Gln547Ter
XM_017009186.1:c.1192C>T	XP_016864675.1:p.Gln398Ter
XM_017009187.1:c.6550C>T	XP_016864676.1:p.Gln2184Ter
XM_017009188.1:c.529C>T	XP_016864677.1:p.Gln177Ter
XM_024454388.1:c.5455C>T	XP_024310156.1:p.Gln1819Ter
XM_024454389.1:c.5044C>T	XP_024310157.1:p.Gln1682Ter
XR_001742034.1:n.6567C>T
XR_001742035.1:n.6567C>T
NM_001369.3:c.6442C>T MANE Select	NP_001360.1:p.Gln2148Ter