Canonical Allele Identifier: CA443251217

Gene: DNAH5

Linked Data

• dbSNP Id: rs1561084823
• MyVariant Identifiers: chr5:g.13708319A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708210A>G , CM000667.2:g.13708210A>G	GRCh38
NC_000005.9:g.13708319A>G , CM000667.1:g.13708319A>G	GRCh37
NC_000005.8:g.13761319A>G	NCBI36
NG_013081.1:g.241271T>C
NG_013081.2:g.241271T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.584T>C
ENST00000265104.5:c.13251T>C MANE Select	ENSP00000265104.4:p.Ala4417=
ENST00000681290.1:c.13206T>C	ENSP00000505288.1:p.Ala4402=
ENST00000265104.4:c.13251T>C	ENSP00000265104.4:p.Ala4417=
NM_001369.2:c.13251T>C	NP_001360.1:p.Ala4417=
XM_005248262.2:c.13206T>C	XP_005248319.1:p.Ala4402=
XM_005248262.3:c.13359T>C	XP_005248319.2:p.Ala4453=
XM_017009177.1:c.12939T>C	XP_016864666.1:p.Ala4313=
XM_017009178.1:c.12264T>C	XP_016864667.1:p.Ala4088=
XM_017009179.2:c.12264T>C	XP_016864668.1:p.Ala4088=
XM_017009185.1:c.8448T>C	XP_016864674.1:p.Ala2816=
XM_017009186.1:c.8001T>C	XP_016864675.1:p.Ala2667=
XM_017009188.1:c.7338T>C	XP_016864677.1:p.Ala2446=
XM_024454388.1:c.12264T>C	XP_024310156.1:p.Ala4088=
XM_024454389.1:c.11853T>C	XP_024310157.1:p.Ala3951=
NM_001369.3:c.13251T>C MANE Select	NP_001360.1:p.Ala4417=