Canonical Allele Identifier: CA443535971

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13753488-A-G
• MyVariant Identifiers: chr5:g.13753597A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753488A>G , CM000667.2:g.13753488A>G	GRCh38
NC_000005.9:g.13753597A>G , CM000667.1:g.13753597A>G	GRCh37
NC_000005.8:g.13806597A>G	NCBI36
NG_013081.1:g.195993T>C
NG_013081.2:g.195993T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10617T>C MANE Select	ENSP00000265104.4:p.Arg3539=
ENST00000681290.1:c.10572T>C	ENSP00000505288.1:p.Arg3524=
ENST00000265104.4:c.10617T>C	ENSP00000265104.4:p.Arg3539=
NM_001369.2:c.10617T>C	NP_001360.1:p.Arg3539=
XM_005248262.2:c.10572T>C	XP_005248319.1:p.Arg3524=
XM_005248262.3:c.10725T>C	XP_005248319.2:p.Arg3575=
XM_017009177.1:c.10725T>C	XP_016864666.1:p.Arg3575=
XM_017009178.1:c.9630T>C	XP_016864667.1:p.Arg3210=
XM_017009179.2:c.9630T>C	XP_016864668.1:p.Arg3210=
XM_017009180.1:c.10725T>C	XP_016864669.1:p.Arg3575=
XM_017009181.1:c.10725T>C	XP_016864670.1:p.Arg3575=
XM_017009182.1:c.10725T>C	XP_016864671.1:p.Arg3575=
XM_017009185.1:c.5814T>C	XP_016864674.1:p.Arg1938=
XM_017009186.1:c.5367T>C	XP_016864675.1:p.Arg1789=
XM_017009188.1:c.4704T>C	XP_016864677.1:p.Arg1568=
XM_024454388.1:c.9630T>C	XP_024310156.1:p.Arg3210=
XM_024454389.1:c.9219T>C	XP_024310157.1:p.Arg3073=
NM_001369.3:c.10617T>C MANE Select	NP_001360.1:p.Arg3539=