Canonical Allele Identifier: CA443248642

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13692029-T-C
• MyVariant Identifiers: chr5:g.13692138T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692029T>C , CM000667.2:g.13692029T>C	GRCh38
NC_000005.9:g.13692138T>C , CM000667.1:g.13692138T>C	GRCh37
NC_000005.8:g.13745138T>C	NCBI36
NG_013081.1:g.257452A>G
NG_013081.2:g.257452A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1163A>G
ENST00000265104.5:c.13830A>G MANE Select	ENSP00000265104.4:p.Glu4610=
ENST00000681290.1:c.13785A>G	ENSP00000505288.1:p.Glu4595=
ENST00000265104.4:c.13830A>G	ENSP00000265104.4:p.Glu4610=
NM_001369.2:c.13830A>G	NP_001360.1:p.Glu4610=
XM_005248262.2:c.13785A>G	XP_005248319.1:p.Glu4595=
XM_005248262.3:c.13938A>G	XP_005248319.2:p.Glu4646=
XM_017009177.1:c.13518A>G	XP_016864666.1:p.Glu4506=
XM_017009178.1:c.12843A>G	XP_016864667.1:p.Glu4281=
XM_017009179.2:c.12843A>G	XP_016864668.1:p.Glu4281=
XM_017009185.1:c.9027A>G	XP_016864674.1:p.Glu3009=
XM_017009186.1:c.8580A>G	XP_016864675.1:p.Glu2860=
XM_017009188.1:c.7917A>G	XP_016864677.1:p.Glu2639=
XM_024454388.1:c.12843A>G	XP_024310156.1:p.Glu4281=
XM_024454389.1:c.12432A>G	XP_024310157.1:p.Glu4144=
NM_001369.3:c.13830A>G MANE Select	NP_001360.1:p.Glu4610=