Canonical Allele Identifier: CA359201848

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13769147G>C (hg19) ; chr5:g.13769038G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769038G>C , CM000667.2:g.13769038G>C	GRCh38
NC_000005.9:g.13769147G>C , CM000667.1:g.13769147G>C	GRCh37
NC_000005.8:g.13822147G>C	NCBI36
NG_013081.1:g.180443C>G
NG_013081.2:g.180443C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9819C>G MANE Select	ENSP00000265104.4:p.Ile3273Met
ENST00000681290.1:c.9774C>G	ENSP00000505288.1:p.Ile3258Met
ENST00000265104.4:c.9819C>G	ENSP00000265104.4:p.Ile3273Met
ENST00000504001.3:n.531C>G
NM_001369.2:c.9819C>G	NP_001360.1:p.Ile3273Met
XM_005248262.2:c.9774C>G	XP_005248319.1:p.Ile3258Met
XM_005248262.3:c.9927C>G	XP_005248319.2:p.Ile3309Met
XM_017009177.1:c.9927C>G	XP_016864666.1:p.Ile3309Met
XM_017009178.1:c.8832C>G	XP_016864667.1:p.Ile2944Met
XM_017009179.2:c.8832C>G	XP_016864668.1:p.Ile2944Met
XM_017009180.1:c.9927C>G	XP_016864669.1:p.Ile3309Met
XM_017009181.1:c.9927C>G	XP_016864670.1:p.Ile3309Met
XM_017009182.1:c.9927C>G	XP_016864671.1:p.Ile3309Met
XM_017009185.1:c.5016C>G	XP_016864674.1:p.Ile1672Met
XM_017009186.1:c.4569C>G	XP_016864675.1:p.Ile1523Met
XM_017009188.1:c.3906C>G	XP_016864677.1:p.Ile1302Met
XM_024454388.1:c.8832C>G	XP_024310156.1:p.Ile2944Met
XM_024454389.1:c.8421C>G	XP_024310157.1:p.Ile2807Met
NM_001369.3:c.9819C>G MANE Select	NP_001360.1:p.Ile3273Met