Canonical Allele Identifier: CA443248798

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692219G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692110G>T , CM000667.2:g.13692110G>T	GRCh38
NC_000005.9:g.13692219G>T , CM000667.1:g.13692219G>T	GRCh37
NC_000005.8:g.13745219G>T	NCBI36
NG_013081.1:g.257371C>A
NG_013081.2:g.257371C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1082C>A
ENST00000265104.5:c.13749C>A MANE Select	ENSP00000265104.4:p.Ser4583=
ENST00000681290.1:c.13704C>A	ENSP00000505288.1:p.Ser4568=
ENST00000265104.4:c.13749C>A	ENSP00000265104.4:p.Ser4583=
NM_001369.2:c.13749C>A	NP_001360.1:p.Ser4583=
XM_005248262.2:c.13704C>A	XP_005248319.1:p.Ser4568=
XM_005248262.3:c.13857C>A	XP_005248319.2:p.Ser4619=
XM_017009177.1:c.13437C>A	XP_016864666.1:p.Ser4479=
XM_017009178.1:c.12762C>A	XP_016864667.1:p.Ser4254=
XM_017009179.2:c.12762C>A	XP_016864668.1:p.Ser4254=
XM_017009185.1:c.8946C>A	XP_016864674.1:p.Ser2982=
XM_017009186.1:c.8499C>A	XP_016864675.1:p.Ser2833=
XM_017009188.1:c.7836C>A	XP_016864677.1:p.Ser2612=
XM_024454388.1:c.12762C>A	XP_024310156.1:p.Ser4254=
XM_024454389.1:c.12351C>A	XP_024310157.1:p.Ser4117=
NM_001369.3:c.13749C>A MANE Select	NP_001360.1:p.Ser4583=