Canonical Allele Identifier: CA3202107

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1933784
• ClinVar RCV Id: RCV002627219
• dbSNP Id: rs772138612
• ExAC: 5:13752396 G / A
• gnomAD v2: 5-13752396-G-A
• gnomAD v4: 5-13752287-G-A
• COSMIC: COSM3608902
• MyVariant Identifiers: chr5:g.13752396G>A (hg19) ; chr5:g.13752287G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752287G>A , CM000667.2:g.13752287G>A	GRCh38
NC_000005.9:g.13752396G>A , CM000667.1:g.13752396G>A	GRCh37
NC_000005.8:g.13805396G>A	NCBI36
NG_013081.1:g.197194C>T
NG_013081.2:g.197194C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10875C>T MANE Select	ENSP00000265104.4:p.Ile3625=
ENST00000681290.1:c.10830C>T	ENSP00000505288.1:p.Ile3610=
ENST00000265104.4:c.10875C>T	ENSP00000265104.4:p.Ile3625=
NM_001369.2:c.10875C>T	NP_001360.1:p.Ile3625=
XM_005248262.2:c.10830C>T	XP_005248319.1:p.Ile3610=
XM_005248262.3:c.10983C>T	XP_005248319.2:p.Ile3661=
XM_017009177.1:c.10983C>T	XP_016864666.1:p.Ile3661=
XM_017009178.1:c.9888C>T	XP_016864667.1:p.Ile3296=
XM_017009179.2:c.9888C>T	XP_016864668.1:p.Ile3296=
XM_017009180.1:c.10983C>T	XP_016864669.1:p.Ile3661=
XM_017009181.1:c.10983C>T	XP_016864670.1:p.Ile3661=
XM_017009182.1:c.10983C>T	XP_016864671.1:p.Ile3661=
XM_017009185.1:c.6072C>T	XP_016864674.1:p.Ile2024=
XM_017009186.1:c.5625C>T	XP_016864675.1:p.Ile1875=
XM_017009188.1:c.4962C>T	XP_016864677.1:p.Ile1654=
XM_024454388.1:c.9888C>T	XP_024310156.1:p.Ile3296=
XM_024454389.1:c.9477C>T	XP_024310157.1:p.Ile3159=
NM_001369.3:c.10875C>T MANE Select	NP_001360.1:p.Ile3625=