Canonical Allele Identifier: CA359212918

Gene: DNAH5

Linked Data

• dbSNP Id: rs1755020508
• MyVariant Identifiers: chr5:g.13781043T>G (hg19) ; chr5:g.13780934T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780934T>G , CM000667.2:g.13780934T>G	GRCh38
NC_000005.9:g.13781043T>G , CM000667.1:g.13781043T>G	GRCh37
NC_000005.8:g.13834043T>G	NCBI36
NG_013081.1:g.168547A>C
NG_013081.2:g.168547A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8846A>C MANE Select	ENSP00000265104.4:p.Gln2949Pro
ENST00000681290.1:c.8801A>C	ENSP00000505288.1:p.Gln2934Pro
ENST00000265104.4:c.8846A>C	ENSP00000265104.4:p.Gln2949Pro
NM_001369.2:c.8846A>C	NP_001360.1:p.Gln2949Pro
XM_005248262.2:c.8801A>C	XP_005248319.1:p.Gln2934Pro
XM_011513990.1:c.8846A>C	XP_011512292.1:p.Gln2949Pro
XR_925598.1:n.9028-3579A>C
XM_005248262.3:c.8954A>C	XP_005248319.2:p.Gln2985Pro
XM_017009177.1:c.8954A>C	XP_016864666.1:p.Gln2985Pro
XM_017009178.1:c.7859A>C	XP_016864667.1:p.Gln2620Pro
XM_017009179.2:c.7859A>C	XP_016864668.1:p.Gln2620Pro
XM_017009180.1:c.8954A>C	XP_016864669.1:p.Gln2985Pro
XM_017009181.1:c.8954A>C	XP_016864670.1:p.Gln2985Pro
XM_017009182.1:c.8954A>C	XP_016864671.1:p.Gln2985Pro
XM_017009183.1:c.8954A>C	XP_016864672.1:p.Gln2985Pro
XM_017009184.1:c.8954A>C	XP_016864673.1:p.Gln2985Pro
XM_017009185.1:c.4043A>C	XP_016864674.1:p.Gln1348Pro
XM_017009186.1:c.3596A>C	XP_016864675.1:p.Gln1199Pro
XM_017009188.1:c.2933A>C	XP_016864677.1:p.Gln978Pro
XM_024454388.1:c.7859A>C	XP_024310156.1:p.Gln2620Pro
XM_024454389.1:c.7448A>C	XP_024310157.1:p.Gln2483Pro
XR_001742034.1:n.8946-3579A>C
XR_001742035.1:n.8946-3579A>C
NM_001369.3:c.8846A>C MANE Select	NP_001360.1:p.Gln2949Pro