Canonical Allele Identifier: CA359218793

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2915601
• ClinVar RCV Id: RCV003652977
• dbSNP Id: rs1288839892
• gnomAD v2: 5-13919334-A-G
• gnomAD v3: 5-13919225-A-G
• gnomAD v4: 5-13919225-A-G
• MyVariant Identifiers: chr5:g.13919334A>G (hg19) ; chr5:g.13919225A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919225A>G , CM000667.2:g.13919225A>G	GRCh38
NC_000005.9:g.13919334A>G , CM000667.1:g.13919334A>G	GRCh37
NC_000005.8:g.13972334A>G	NCBI36
NG_013081.1:g.30256T>C
NG_013081.2:g.30256T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.982T>C
ENST00000682376.1:n.970T>C
ENST00000682586.1:n.1019T>C
ENST00000683011.1:n.865T>C
ENST00000683967.1:n.1025T>C
ENST00000684013.1:n.1025T>C
ENST00000684099.1:n.1021T>C
ENST00000265104.5:c.926T>C MANE Select	ENSP00000265104.4:p.Val309Ala
ENST00000680213.1:c.686T>C	ENSP00000506622.1:p.Val229Ala
ENST00000681290.1:c.881T>C	ENSP00000505288.1:p.Val294Ala
ENST00000265104.4:c.926T>C	ENSP00000265104.4:p.Val309Ala
ENST00000508040.1:n.1334T>C
NM_001369.2:c.926T>C	NP_001360.1:p.Val309Ala
XM_005248262.2:c.881T>C	XP_005248319.1:p.Val294Ala
XM_011513990.1:c.926T>C	XP_011512292.1:p.Val309Ala
XR_925598.1:n.1133T>C
XM_005248262.3:c.1034T>C	XP_005248319.2:p.Val345Ala
XM_017009177.1:c.1034T>C	XP_016864666.1:p.Val345Ala
XM_017009178.1:c.-62T>C	XP_016864667.1:n.-62T>C
XM_017009180.1:c.1034T>C	XP_016864669.1:p.Val345Ala
XM_017009181.1:c.1034T>C	XP_016864670.1:p.Val345Ala
XM_017009182.1:c.1034T>C	XP_016864671.1:p.Val345Ala
XM_017009183.1:c.1034T>C	XP_016864672.1:p.Val345Ala
XM_017009184.1:c.1034T>C	XP_016864673.1:p.Val345Ala
XM_017009187.1:c.1034T>C	XP_016864676.1:p.Val345Ala
XM_024454388.1:c.-1981T>C	XP_024310156.1:n.-1981T>C
XM_024454389.1:c.-1034T>C	XP_024310157.1:n.-1034T>C
XR_001742034.1:n.1051T>C
XR_001742035.1:n.1051T>C
NM_001369.3:c.926T>C MANE Select	NP_001360.1:p.Val309Ala