Canonical Allele Identifier: CA443535996

Gene: DNAH5

Linked Data

• dbSNP Id: rs1253166444
• gnomAD v2: 5-13753618-A-G
• MyVariant Identifiers: chr5:g.13753618A>G (hg19) ; chr5:g.13753509A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753509A>G , CM000667.2:g.13753509A>G	GRCh38
NC_000005.9:g.13753618A>G , CM000667.1:g.13753618A>G	GRCh37
NC_000005.8:g.13806618A>G	NCBI36
NG_013081.1:g.195972T>C
NG_013081.2:g.195972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10596T>C MANE Select	ENSP00000265104.4:p.Gly3532=
ENST00000681290.1:c.10551T>C	ENSP00000505288.1:p.Gly3517=
ENST00000265104.4:c.10596T>C	ENSP00000265104.4:p.Gly3532=
NM_001369.2:c.10596T>C	NP_001360.1:p.Gly3532=
XM_005248262.2:c.10551T>C	XP_005248319.1:p.Gly3517=
XM_005248262.3:c.10704T>C	XP_005248319.2:p.Gly3568=
XM_017009177.1:c.10704T>C	XP_016864666.1:p.Gly3568=
XM_017009178.1:c.9609T>C	XP_016864667.1:p.Gly3203=
XM_017009179.2:c.9609T>C	XP_016864668.1:p.Gly3203=
XM_017009180.1:c.10704T>C	XP_016864669.1:p.Gly3568=
XM_017009181.1:c.10704T>C	XP_016864670.1:p.Gly3568=
XM_017009182.1:c.10704T>C	XP_016864671.1:p.Gly3568=
XM_017009185.1:c.5793T>C	XP_016864674.1:p.Gly1931=
XM_017009186.1:c.5346T>C	XP_016864675.1:p.Gly1782=
XM_017009188.1:c.4683T>C	XP_016864677.1:p.Gly1561=
XM_024454388.1:c.9609T>C	XP_024310156.1:p.Gly3203=
XM_024454389.1:c.9198T>C	XP_024310157.1:p.Gly3066=
NM_001369.3:c.10596T>C MANE Select	NP_001360.1:p.Gly3532=