Canonical Allele Identifier: CA350789

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 219719
• ClinVar RCV Id: RCV000206793 ; RCV000666957 ; RCV000585417
• dbSNP Id: rs140700961
• ExAC: 5:13922302 C / T
• gnomAD v2: 5-13922302-C-T
• gnomAD v3: 5-13922193-C-T
• gnomAD v4: 5-13922193-C-T
• MyVariant Identifiers: chr5:g.13922302C>T (hg19) ; chr5:g.13922193C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13922193C>T , CM000667.2:g.13922193C>T	GRCh38
NC_000005.9:g.13922302C>T , CM000667.1:g.13922302C>T	GRCh37
NC_000005.8:g.13975302C>T	NCBI36
NG_013081.1:g.27288G>A
NG_013081.2:g.27288G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.630G>A
ENST00000682376.1:n.618G>A
ENST00000682586.1:n.618G>A
ENST00000683011.1:n.513G>A
ENST00000683967.1:n.624G>A
ENST00000684013.1:n.624G>A
ENST00000684099.1:n.669G>A
ENST00000265104.5:c.574G>A MANE Select	ENSP00000265104.4:p.Ala192Thr
ENST00000680213.1:c.334G>A	ENSP00000506622.1:p.Ala112Thr
ENST00000681290.1:c.529G>A	ENSP00000505288.1:p.Ala177Thr
ENST00000265104.4:c.574G>A	ENSP00000265104.4:p.Ala192Thr
ENST00000508040.1:n.933G>A
NM_001369.2:c.574G>A	NP_001360.1:p.Ala192Thr
XM_005248262.2:c.529G>A	XP_005248319.1:p.Ala177Thr
XM_011513990.1:c.574G>A	XP_011512292.1:p.Ala192Thr
XR_925598.1:n.781G>A
XM_005248262.3:c.682G>A	XP_005248319.2:p.Ala228Thr
XM_017009177.1:c.682G>A	XP_016864666.1:p.Ala228Thr
XM_017009178.1:c.-463G>A	XP_016864667.1:n.-463G>A
XM_017009180.1:c.682G>A	XP_016864669.1:p.Ala228Thr
XM_017009181.1:c.682G>A	XP_016864670.1:p.Ala228Thr
XM_017009182.1:c.682G>A	XP_016864671.1:p.Ala228Thr
XM_017009183.1:c.682G>A	XP_016864672.1:p.Ala228Thr
XM_017009184.1:c.682G>A	XP_016864673.1:p.Ala228Thr
XM_017009187.1:c.682G>A	XP_016864676.1:p.Ala228Thr
XM_024454388.1:c.-2333G>A	XP_024310156.1:n.-2333G>A
XM_024454389.1:c.-1386G>A	XP_024310157.1:n.-1386G>A
XR_001742034.1:n.699G>A
XR_001742035.1:n.699G>A
NM_001369.3:c.574G>A MANE Select	NP_001360.1:p.Ala192Thr