Canonical Allele Identifier: CA443535816

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753522A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753413A>G , CM000667.2:g.13753413A>G	GRCh38
NC_000005.9:g.13753522A>G , CM000667.1:g.13753522A>G	GRCh37
NC_000005.8:g.13806522A>G	NCBI36
NG_013081.1:g.196068T>C
NG_013081.2:g.196068T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10692T>C MANE Select	ENSP00000265104.4:p.Ser3564=
ENST00000681290.1:c.10647T>C	ENSP00000505288.1:p.Ser3549=
ENST00000265104.4:c.10692T>C	ENSP00000265104.4:p.Ser3564=
NM_001369.2:c.10692T>C	NP_001360.1:p.Ser3564=
XM_005248262.2:c.10647T>C	XP_005248319.1:p.Ser3549=
XM_005248262.3:c.10800T>C	XP_005248319.2:p.Ser3600=
XM_017009177.1:c.10800T>C	XP_016864666.1:p.Ser3600=
XM_017009178.1:c.9705T>C	XP_016864667.1:p.Ser3235=
XM_017009179.2:c.9705T>C	XP_016864668.1:p.Ser3235=
XM_017009180.1:c.10800T>C	XP_016864669.1:p.Ser3600=
XM_017009181.1:c.10800T>C	XP_016864670.1:p.Ser3600=
XM_017009182.1:c.10800T>C	XP_016864671.1:p.Ser3600=
XM_017009185.1:c.5889T>C	XP_016864674.1:p.Ser1963=
XM_017009186.1:c.5442T>C	XP_016864675.1:p.Ser1814=
XM_017009188.1:c.4779T>C	XP_016864677.1:p.Ser1593=
XM_024454388.1:c.9705T>C	XP_024310156.1:p.Ser3235=
XM_024454389.1:c.9294T>C	XP_024310157.1:p.Ser3098=
NM_001369.3:c.10692T>C MANE Select	NP_001360.1:p.Ser3564=