Canonical Allele Identifier: CA3204788

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 258004
• ClinVar RCV Id: RCV000248964 ; RCV000282674 ; RCV002058035
• dbSNP Id: rs201116549
• ExAC: 5:13911483 T / C
• gnomAD v2: 5-13911483-T-C
• gnomAD v3: 5-13911374-T-C
• gnomAD v4: 5-13911374-T-C
• MyVariant Identifiers: chr5:g.13911483T>C (hg19) ; chr5:g.13911374T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13911374T>C , CM000667.2:g.13911374T>C	GRCh38
NC_000005.9:g.13911483T>C , CM000667.1:g.13911483T>C	GRCh37
NC_000005.8:g.13964483T>C	NCBI36
NG_013081.1:g.38107A>G
NG_013081.2:g.38107A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.1712A>G
ENST00000683011.1:n.1595A>G
ENST00000684013.1:n.2316A>G
ENST00000684099.1:n.2312A>G
ENST00000265104.5:c.1644+12A>G MANE Select	ENSP00000265104.4:n.1644+12A>G
ENST00000680213.1:c.1416A>G	ENSP00000506622.1:p.Ile472Met
ENST00000681290.1:c.1599+12A>G	ENSP00000505288.1:n.1599+12A>G
ENST00000265104.4:c.1644+12A>G	ENSP00000265104.4:n.1644+12A>G
ENST00000508040.1:n.2064A>G
NM_001369.2:c.1644+12A>G	NP_001360.1:n.1644+12A>G
XM_005248262.2:c.1599+12A>G	XP_005248319.1:n.1599+12A>G
XM_011513990.1:c.1644+12A>G	XP_011512292.1:n.1644+12A>G
XR_925598.1:n.1851+12A>G
XM_005248262.3:c.1752+12A>G	XP_005248319.2:n.1752+12A>G
XM_017009177.1:c.1752+12A>G	XP_016864666.1:n.1752+12A>G
XM_017009178.1:c.657+12A>G	XP_016864667.1:n.657+12A>G
XM_017009179.2:c.657+12A>G	XP_016864668.1:n.657+12A>G
XM_017009180.1:c.1752+12A>G	XP_016864669.1:n.1752+12A>G
XM_017009181.1:c.1752+12A>G	XP_016864670.1:n.1752+12A>G
XM_017009182.1:c.1752+12A>G	XP_016864671.1:n.1752+12A>G
XM_017009183.1:c.1752+12A>G	XP_016864672.1:n.1752+12A>G
XM_017009184.1:c.1752+12A>G	XP_016864673.1:n.1752+12A>G
XM_017009187.1:c.1752+12A>G	XP_016864676.1:n.1752+12A>G
XM_024454388.1:c.657+12A>G	XP_024310156.1:n.657+12A>G
XM_024454389.1:c.246+12A>G	XP_024310157.1:n.246+12A>G
XR_001742034.1:n.1769+12A>G
XR_001742035.1:n.1769+12A>G
NM_001369.3:c.1644+12A>G MANE Select	NP_001360.1:n.1644+12A>G