Canonical Allele Identifier: CA3204856

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 454748
• ClinVar RCV Id: RCV000538695 ; RCV002283489
• dbSNP Id: rs747900131
• ExAC: 5:13913956 G / A
• gnomAD v2: 5-13913956-G-A
• gnomAD v3: 5-13913847-G-A
• gnomAD v4: 5-13913847-G-A
• MyVariant Identifiers: chr5:g.13913956G>A (hg19) ; chr5:g.13913847G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13913847G>A , CM000667.2:g.13913847G>A	GRCh38
NC_000005.9:g.13913956G>A , CM000667.1:g.13913956G>A	GRCh37
NC_000005.8:g.13966956G>A	NCBI36
NG_013081.1:g.35634C>T
NG_013081.2:g.35634C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000680213.2:n.1488C>T
ENST00000682376.1:n.5661C>T
ENST00000683011.1:n.1371C>T
ENST00000683967.1:n.3797C>T
ENST00000684013.1:n.2092C>T
ENST00000684099.1:n.2088C>T
ENST00000265104.5:c.1432C>T MANE Select	ENSP00000265104.4:p.Arg478Ter
ENST00000680213.1:c.1192C>T	ENSP00000506622.1:p.Arg398Ter
ENST00000681290.1:c.1387C>T	ENSP00000505288.1:p.Arg463Ter
ENST00000265104.4:c.1432C>T	ENSP00000265104.4:p.Arg478Ter
ENST00000508040.1:n.1840C>T
NM_001369.2:c.1432C>T	NP_001360.1:p.Arg478Ter
XM_005248262.2:c.1387C>T	XP_005248319.1:p.Arg463Ter
XM_011513990.1:c.1432C>T	XP_011512292.1:p.Arg478Ter
XR_925598.1:n.1639C>T
XM_005248262.3:c.1540C>T	XP_005248319.2:p.Arg514Ter
XM_017009177.1:c.1540C>T	XP_016864666.1:p.Arg514Ter
XM_017009178.1:c.445C>T	XP_016864667.1:p.Arg149Ter
XM_017009179.2:c.445C>T	XP_016864668.1:p.Arg149Ter
XM_017009180.1:c.1540C>T	XP_016864669.1:p.Arg514Ter
XM_017009181.1:c.1540C>T	XP_016864670.1:p.Arg514Ter
XM_017009182.1:c.1540C>T	XP_016864671.1:p.Arg514Ter
XM_017009183.1:c.1540C>T	XP_016864672.1:p.Arg514Ter
XM_017009184.1:c.1540C>T	XP_016864673.1:p.Arg514Ter
XM_017009187.1:c.1540C>T	XP_016864676.1:p.Arg514Ter
XM_024454388.1:c.445C>T	XP_024310156.1:p.Arg149Ter
XM_024454389.1:c.34C>T	XP_024310157.1:p.Arg12Ter
XR_001742034.1:n.1557C>T
XR_001742035.1:n.1557C>T
NM_001369.3:c.1432C>T MANE Select	NP_001360.1:p.Arg478Ter