Canonical Allele Identifier: CA359188705

Gene: DNAH5

Linked Data

• COSMIC: COSM3608775
• MyVariant Identifiers: chr5:g.13692205T>C (hg19) ; chr5:g.13692096T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692096T>C , CM000667.2:g.13692096T>C	GRCh38
NC_000005.9:g.13692205T>C , CM000667.1:g.13692205T>C	GRCh37
NC_000005.8:g.13745205T>C	NCBI36
NG_013081.1:g.257385A>G
NG_013081.2:g.257385A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1096A>G
ENST00000265104.5:c.13763A>G MANE Select	ENSP00000265104.4:p.Lys4588Arg
ENST00000681290.1:c.13718A>G	ENSP00000505288.1:p.Lys4573Arg
ENST00000265104.4:c.13763A>G	ENSP00000265104.4:p.Lys4588Arg
NM_001369.2:c.13763A>G	NP_001360.1:p.Lys4588Arg
XM_005248262.2:c.13718A>G	XP_005248319.1:p.Lys4573Arg
XM_005248262.3:c.13871A>G	XP_005248319.2:p.Lys4624Arg
XM_017009177.1:c.13451A>G	XP_016864666.1:p.Lys4484Arg
XM_017009178.1:c.12776A>G	XP_016864667.1:p.Lys4259Arg
XM_017009179.2:c.12776A>G	XP_016864668.1:p.Lys4259Arg
XM_017009185.1:c.8960A>G	XP_016864674.1:p.Lys2987Arg
XM_017009186.1:c.8513A>G	XP_016864675.1:p.Lys2838Arg
XM_017009188.1:c.7850A>G	XP_016864677.1:p.Lys2617Arg
XM_024454388.1:c.12776A>G	XP_024310156.1:p.Lys4259Arg
XM_024454389.1:c.12365A>G	XP_024310157.1:p.Lys4122Arg
NM_001369.3:c.13763A>G MANE Select	NP_001360.1:p.Lys4588Arg