Canonical Allele Identifier: CA359198834

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2153494
• ClinVar RCV Id: RCV003077641
• COSMIC: COSM5986261
• MyVariant Identifiers: chr5:g.13891084C>T (hg19) ; chr5:g.13890975C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13890975C>T , CM000667.2:g.13890975C>T	GRCh38
NC_000005.9:g.13891084C>T , CM000667.1:g.13891084C>T	GRCh37
NC_000005.8:g.13944084C>T	NCBI36
NG_013081.1:g.58506G>A
NG_013081.2:g.58506G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.2577+1G>A MANE Select	ENSP00000265104.4:n.2577+1G>A
ENST00000681290.1:c.2532+1G>A	ENSP00000505288.1:n.2532+1G>A
ENST00000265104.4:c.2577+1G>A	ENSP00000265104.4:n.2577+1G>A
NM_001369.2:c.2577+1G>A	NP_001360.1:n.2577+1G>A
XM_005248262.2:c.2532+1G>A	XP_005248319.1:n.2532+1G>A
XM_011513990.1:c.2577+1G>A	XP_011512292.1:n.2577+1G>A
XR_925598.1:n.2784+1G>A
XM_005248262.3:c.2685+1G>A	XP_005248319.2:n.2685+1G>A
XM_017009177.1:c.2685+1G>A	XP_016864666.1:n.2685+1G>A
XM_017009178.1:c.1590+1G>A	XP_016864667.1:n.1590+1G>A
XM_017009179.2:c.1590+1G>A	XP_016864668.1:n.1590+1G>A
XM_017009180.1:c.2685+1G>A	XP_016864669.1:n.2685+1G>A
XM_017009181.1:c.2685+1G>A	XP_016864670.1:n.2685+1G>A
XM_017009182.1:c.2685+1G>A	XP_016864671.1:n.2685+1G>A
XM_017009183.1:c.2685+1G>A	XP_016864672.1:n.2685+1G>A
XM_017009184.1:c.2685+1G>A	XP_016864673.1:n.2685+1G>A
XM_017009187.1:c.2685+1G>A	XP_016864676.1:n.2685+1G>A
XM_024454388.1:c.1590+1G>A	XP_024310156.1:n.1590+1G>A
XM_024454389.1:c.1179+1G>A	XP_024310157.1:n.1179+1G>A
XR_001742034.1:n.2702+1G>A
XR_001742035.1:n.2702+1G>A
NM_001369.3:c.2577+1G>A MANE Select	NP_001360.1:n.2577+1G>A