Canonical Allele Identifier: CA443535487

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1460459
• ClinVar RCV Id: RCV001951606
• dbSNP Id: rs1316399548
• gnomAD v2: 5-13770869-G-A
• gnomAD v4: 5-13770760-G-A
• COSMIC: COSM3608967
• MyVariant Identifiers: chr5:g.13770869G>A (hg19) ; chr5:g.13770760G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770760G>A , CM000667.2:g.13770760G>A	GRCh38
NC_000005.9:g.13770869G>A , CM000667.1:g.13770869G>A	GRCh37
NC_000005.8:g.13823869G>A	NCBI36
NG_013081.1:g.178721C>T
NG_013081.2:g.178721C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.9594C>T MANE Select	ENSP00000265104.4:p.Thr3198=
ENST00000681290.1:c.9549C>T	ENSP00000505288.1:p.Thr3183=
ENST00000265104.4:c.9594C>T	ENSP00000265104.4:p.Thr3198=
ENST00000504001.3:n.306C>T
NM_001369.2:c.9594C>T	NP_001360.1:p.Thr3198=
XM_005248262.2:c.9549C>T	XP_005248319.1:p.Thr3183=
XM_005248262.3:c.9702C>T	XP_005248319.2:p.Thr3234=
XM_017009177.1:c.9702C>T	XP_016864666.1:p.Thr3234=
XM_017009178.1:c.8607C>T	XP_016864667.1:p.Thr2869=
XM_017009179.2:c.8607C>T	XP_016864668.1:p.Thr2869=
XM_017009180.1:c.9702C>T	XP_016864669.1:p.Thr3234=
XM_017009181.1:c.9702C>T	XP_016864670.1:p.Thr3234=
XM_017009182.1:c.9702C>T	XP_016864671.1:p.Thr3234=
XM_017009183.1:c.9702C>T	XP_016864672.1:p.Thr3234=
XM_017009185.1:c.4791C>T	XP_016864674.1:p.Thr1597=
XM_017009186.1:c.4344C>T	XP_016864675.1:p.Thr1448=
XM_017009188.1:c.3681C>T	XP_016864677.1:p.Thr1227=
XM_024454388.1:c.8607C>T	XP_024310156.1:p.Thr2869=
XM_024454389.1:c.8196C>T	XP_024310157.1:p.Thr2732=
NM_001369.3:c.9594C>T MANE Select	NP_001360.1:p.Thr3198=