Canonical Allele Identifier: CA359199332

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13829518-A-C
• MyVariant Identifiers: chr5:g.13829627A>C (hg19) ; chr5:g.13829518A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829518A>C , CM000667.2:g.13829518A>C	GRCh38
NC_000005.9:g.13829627A>C , CM000667.1:g.13829627A>C	GRCh37
NC_000005.8:g.13882627A>C	NCBI36
NG_013081.1:g.119963T>G
NG_013081.2:g.119963T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683090.1:n.1367T>G
ENST00000265104.5:c.6436T>G MANE Select	ENSP00000265104.4:p.Ser2146Ala
ENST00000681290.1:c.6391T>G	ENSP00000505288.1:p.Ser2131Ala
ENST00000265104.4:c.6436T>G	ENSP00000265104.4:p.Ser2146Ala
NM_001369.2:c.6436T>G	NP_001360.1:p.Ser2146Ala
XM_005248262.2:c.6391T>G	XP_005248319.1:p.Ser2131Ala
XM_011513990.1:c.6436T>G	XP_011512292.1:p.Ser2146Ala
XR_925598.1:n.6643T>G
XM_005248262.3:c.6544T>G	XP_005248319.2:p.Ser2182Ala
XM_017009177.1:c.6544T>G	XP_016864666.1:p.Ser2182Ala
XM_017009178.1:c.5449T>G	XP_016864667.1:p.Ser1817Ala
XM_017009179.2:c.5449T>G	XP_016864668.1:p.Ser1817Ala
XM_017009180.1:c.6544T>G	XP_016864669.1:p.Ser2182Ala
XM_017009181.1:c.6544T>G	XP_016864670.1:p.Ser2182Ala
XM_017009182.1:c.6544T>G	XP_016864671.1:p.Ser2182Ala
XM_017009183.1:c.6544T>G	XP_016864672.1:p.Ser2182Ala
XM_017009184.1:c.6544T>G	XP_016864673.1:p.Ser2182Ala
XM_017009185.1:c.1633T>G	XP_016864674.1:p.Ser545Ala
XM_017009186.1:c.1186T>G	XP_016864675.1:p.Ser396Ala
XM_017009187.1:c.6544T>G	XP_016864676.1:p.Ser2182Ala
XM_017009188.1:c.523T>G	XP_016864677.1:p.Ser175Ala
XM_024454388.1:c.5449T>G	XP_024310156.1:p.Ser1817Ala
XM_024454389.1:c.5038T>G	XP_024310157.1:p.Ser1680Ala
XR_001742034.1:n.6561T>G
XR_001742035.1:n.6561T>G
NM_001369.3:c.6436T>G MANE Select	NP_001360.1:p.Ser2146Ala