Canonical Allele Identifier: CA359224475

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13735925A>T (hg19) ; chr5:g.13735816A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735816A>T , CM000667.2:g.13735816A>T	GRCh38
NC_000005.9:g.13735925A>T , CM000667.1:g.13735925A>T	GRCh37
NC_000005.8:g.13788925A>T	NCBI36
NG_013081.1:g.213665T>A
NG_013081.2:g.213665T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.11570+2T>A MANE Select	ENSP00000265104.4:n.11570+2T>A
ENST00000681290.1:c.11525+2T>A	ENSP00000505288.1:n.11525+2T>A
ENST00000265104.4:c.11570+2T>A	ENSP00000265104.4:n.11570+2T>A
NM_001369.2:c.11570+2T>A	NP_001360.1:n.11570+2T>A
XM_005248262.2:c.11525+2T>A	XP_005248319.1:n.11525+2T>A
XM_005248262.3:c.11678+2T>A	XP_005248319.2:n.11678+2T>A
XM_017009177.1:c.11678+2T>A	XP_016864666.1:n.11678+2T>A
XM_017009178.1:c.10583+2T>A	XP_016864667.1:n.10583+2T>A
XM_017009179.2:c.10583+2T>A	XP_016864668.1:n.10583+2T>A
XM_017009180.1:c.11678+2T>A	XP_016864669.1:n.11678+2T>A
XM_017009181.1:c.11678+2T>A	XP_016864670.1:n.11678+2T>A
XM_017009182.1:c.*4+2T>A	XP_016864671.1:n.*4+2T>A
XM_017009185.1:c.6767+2T>A	XP_016864674.1:n.6767+2T>A
XM_017009186.1:c.6320+2T>A	XP_016864675.1:n.6320+2T>A
XM_017009188.1:c.5657+2T>A	XP_016864677.1:n.5657+2T>A
XM_024454388.1:c.10583+2T>A	XP_024310156.1:n.10583+2T>A
XM_024454389.1:c.10172+2T>A	XP_024310157.1:n.10172+2T>A
NM_001369.3:c.11570+2T>A MANE Select	NP_001360.1:n.11570+2T>A