Canonical Allele Identifier: CA443260012

Gene: DNAH5

Linked Data

• dbSNP Id: rs1313193891
• gnomAD v2: 5-13735313-G-A
• gnomAD v4: 5-13735204-G-A
• MyVariant Identifiers: chr5:g.13735313G>A (hg19) ; chr5:g.13735204G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735204G>A , CM000667.2:g.13735204G>A	GRCh38
NC_000005.9:g.13735313G>A , CM000667.1:g.13735313G>A	GRCh37
NC_000005.8:g.13788313G>A	NCBI36
NG_013081.1:g.214277C>T
NG_013081.2:g.214277C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.11688C>T MANE Select	ENSP00000265104.4:p.Thr3896=
ENST00000681290.1:c.11643C>T	ENSP00000505288.1:p.Thr3881=
ENST00000265104.4:c.11688C>T	ENSP00000265104.4:p.Thr3896=
NM_001369.2:c.11688C>T	NP_001360.1:p.Thr3896=
XM_005248262.2:c.11643C>T	XP_005248319.1:p.Thr3881=
XM_005248262.3:c.11796C>T	XP_005248319.2:p.Thr3932=
XM_017009177.1:c.11796C>T	XP_016864666.1:p.Thr3932=
XM_017009178.1:c.10701C>T	XP_016864667.1:p.Thr3567=
XM_017009179.2:c.10701C>T	XP_016864668.1:p.Thr3567=
XM_017009180.1:c.11796C>T	XP_016864669.1:p.Thr3932=
XM_017009181.1:c.11796C>T	XP_016864670.1:p.Thr3932=
XM_017009185.1:c.6885C>T	XP_016864674.1:p.Thr2295=
XM_017009186.1:c.6438C>T	XP_016864675.1:p.Thr2146=
XM_017009188.1:c.5775C>T	XP_016864677.1:p.Thr1925=
XM_024454388.1:c.10701C>T	XP_024310156.1:p.Thr3567=
XM_024454389.1:c.10290C>T	XP_024310157.1:p.Thr3430=
NM_001369.3:c.11688C>T MANE Select	NP_001360.1:p.Thr3896=