Canonical Allele Identifier: CA359207112

Gene: DNAH5

Linked Data

• COSMIC: COSM5709463
• MyVariant Identifiers: chr5:g.13717506A>C (hg19) ; chr5:g.13717397A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717397A>C , CM000667.2:g.13717397A>C	GRCh38
NC_000005.9:g.13717506A>C , CM000667.1:g.13717506A>C	GRCh37
NC_000005.8:g.13770506A>C	NCBI36
NG_013081.1:g.232084T>G
NG_013081.2:g.232084T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.12623T>G MANE Select	ENSP00000265104.4:p.Ile4208Ser
ENST00000681290.1:c.12578T>G	ENSP00000505288.1:p.Ile4193Ser
ENST00000265104.4:c.12623T>G	ENSP00000265104.4:p.Ile4208Ser
NM_001369.2:c.12623T>G	NP_001360.1:p.Ile4208Ser
XM_005248262.2:c.12578T>G	XP_005248319.1:p.Ile4193Ser
XM_005248262.3:c.12731T>G	XP_005248319.2:p.Ile4244Ser
XM_017009177.1:c.12731T>G	XP_016864666.1:p.Ile4244Ser
XM_017009178.1:c.11636T>G	XP_016864667.1:p.Ile3879Ser
XM_017009179.2:c.11636T>G	XP_016864668.1:p.Ile3879Ser
XM_017009180.1:c.12731T>G	XP_016864669.1:p.Ile4244Ser
XM_017009185.1:c.7820T>G	XP_016864674.1:p.Ile2607Ser
XM_017009186.1:c.7373T>G	XP_016864675.1:p.Ile2458Ser
XM_017009188.1:c.6710T>G	XP_016864677.1:p.Ile2237Ser
XM_024454388.1:c.11636T>G	XP_024310156.1:p.Ile3879Ser
XM_024454389.1:c.11225T>G	XP_024310157.1:p.Ile3742Ser
NM_001369.3:c.12623T>G MANE Select	NP_001360.1:p.Ile4208Ser