Canonical Allele Identifier: CA443260019

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13735213-G-A
• COSMIC: COSM1718647
• MyVariant Identifiers: chr5:g.13735322G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735213G>A , CM000667.2:g.13735213G>A	GRCh38
NC_000005.9:g.13735322G>A , CM000667.1:g.13735322G>A	GRCh37
NC_000005.8:g.13788322G>A	NCBI36
NG_013081.1:g.214268C>T
NG_013081.2:g.214268C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.11679C>T MANE Select	ENSP00000265104.4:p.Phe3893=
ENST00000681290.1:c.11634C>T	ENSP00000505288.1:p.Phe3878=
ENST00000265104.4:c.11679C>T	ENSP00000265104.4:p.Phe3893=
NM_001369.2:c.11679C>T	NP_001360.1:p.Phe3893=
XM_005248262.2:c.11634C>T	XP_005248319.1:p.Phe3878=
XM_005248262.3:c.11787C>T	XP_005248319.2:p.Phe3929=
XM_017009177.1:c.11787C>T	XP_016864666.1:p.Phe3929=
XM_017009178.1:c.10692C>T	XP_016864667.1:p.Phe3564=
XM_017009179.2:c.10692C>T	XP_016864668.1:p.Phe3564=
XM_017009180.1:c.11787C>T	XP_016864669.1:p.Phe3929=
XM_017009181.1:c.11787C>T	XP_016864670.1:p.Phe3929=
XM_017009185.1:c.6876C>T	XP_016864674.1:p.Phe2292=
XM_017009186.1:c.6429C>T	XP_016864675.1:p.Phe2143=
XM_017009188.1:c.5766C>T	XP_016864677.1:p.Phe1922=
XM_024454388.1:c.10692C>T	XP_024310156.1:p.Phe3564=
XM_024454389.1:c.10281C>T	XP_024310157.1:p.Phe3427=
NM_001369.3:c.11679C>T MANE Select	NP_001360.1:p.Phe3893=