Canonical Allele Identifier: CA346933

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 208992
• ClinVar RCV Id: RCV000190910 ; RCV000477807 ; RCV000814567
• dbSNP Id: rs771663107
• ExAC: 5:13865784 G / A
• gnomAD v2: 5-13865784-G-A
• gnomAD v3: 5-13865675-G-A
• gnomAD v4: 5-13865675-G-A
• MyVariant Identifiers: chr5:g.13865784G>A (hg19) ; chr5:g.13865675G>A (hg38)
• PubMed: PMID:19357118 ; PMID:19630565 ; PMID:20301301 ; PMID:23477994

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13865675G>A , CM000667.2:g.13865675G>A	GRCh38
NC_000005.9:g.13865784G>A , CM000667.1:g.13865784G>A	GRCh37
NC_000005.8:g.13918784G>A	NCBI36
NG_013081.1:g.83806C>T
NG_013081.2:g.83806C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.4348C>T MANE Select	ENSP00000265104.4:p.Gln1450Ter
ENST00000681290.1:c.4303C>T	ENSP00000505288.1:p.Gln1435Ter
ENST00000265104.4:c.4348C>T	ENSP00000265104.4:p.Gln1450Ter
NM_001369.2:c.4348C>T	NP_001360.1:p.Gln1450Ter
XM_005248262.2:c.4303C>T	XP_005248319.1:p.Gln1435Ter
XM_011513990.1:c.4348C>T	XP_011512292.1:p.Gln1450Ter
XR_925598.1:n.4555C>T
XM_005248262.3:c.4456C>T	XP_005248319.2:p.Gln1486Ter
XM_017009177.1:c.4456C>T	XP_016864666.1:p.Gln1486Ter
XM_017009178.1:c.3361C>T	XP_016864667.1:p.Gln1121Ter
XM_017009179.2:c.3361C>T	XP_016864668.1:p.Gln1121Ter
XM_017009180.1:c.4456C>T	XP_016864669.1:p.Gln1486Ter
XM_017009181.1:c.4456C>T	XP_016864670.1:p.Gln1486Ter
XM_017009182.1:c.4456C>T	XP_016864671.1:p.Gln1486Ter
XM_017009183.1:c.4456C>T	XP_016864672.1:p.Gln1486Ter
XM_017009184.1:c.4456C>T	XP_016864673.1:p.Gln1486Ter
XM_017009187.1:c.4456C>T	XP_016864676.1:p.Gln1486Ter
XM_024454388.1:c.3361C>T	XP_024310156.1:p.Gln1121Ter
XM_024454389.1:c.2950C>T	XP_024310157.1:p.Gln984Ter
XR_001742034.1:n.4473C>T
XR_001742035.1:n.4473C>T
NM_001369.3:c.4348C>T MANE Select	NP_001360.1:p.Gln1450Ter