Canonical Allele Identifier: CA359197219

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13708236-T-C
• MyVariant Identifiers: chr5:g.13708345T>C (hg19) ; chr5:g.13708236T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708236T>C , CM000667.2:g.13708236T>C	GRCh38
NC_000005.9:g.13708345T>C , CM000667.1:g.13708345T>C	GRCh37
NC_000005.8:g.13761345T>C	NCBI36
NG_013081.1:g.241245A>G
NG_013081.2:g.241245A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.558A>G
ENST00000265104.5:c.13225A>G MANE Select	ENSP00000265104.4:p.Ser4409Gly
ENST00000681290.1:c.13180A>G	ENSP00000505288.1:p.Ser4394Gly
ENST00000265104.4:c.13225A>G	ENSP00000265104.4:p.Ser4409Gly
NM_001369.2:c.13225A>G	NP_001360.1:p.Ser4409Gly
XM_005248262.2:c.13180A>G	XP_005248319.1:p.Ser4394Gly
XM_005248262.3:c.13333A>G	XP_005248319.2:p.Ser4445Gly
XM_017009177.1:c.12913A>G	XP_016864666.1:p.Ser4305Gly
XM_017009178.1:c.12238A>G	XP_016864667.1:p.Ser4080Gly
XM_017009179.2:c.12238A>G	XP_016864668.1:p.Ser4080Gly
XM_017009185.1:c.8422A>G	XP_016864674.1:p.Ser2808Gly
XM_017009186.1:c.7975A>G	XP_016864675.1:p.Ser2659Gly
XM_017009188.1:c.7312A>G	XP_016864677.1:p.Ser2438Gly
XM_024454388.1:c.12238A>G	XP_024310156.1:p.Ser4080Gly
XM_024454389.1:c.11827A>G	XP_024310157.1:p.Ser3943Gly
NM_001369.3:c.13225A>G MANE Select	NP_001360.1:p.Ser4409Gly