Canonical Allele Identifier: CA359197195

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708343G>C (hg19) ; chr5:g.13708234G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708234G>C , CM000667.2:g.13708234G>C	GRCh38
NC_000005.9:g.13708343G>C , CM000667.1:g.13708343G>C	GRCh37
NC_000005.8:g.13761343G>C	NCBI36
NG_013081.1:g.241247C>G
NG_013081.2:g.241247C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.560C>G
ENST00000265104.5:c.13227C>G MANE Select	ENSP00000265104.4:p.Ser4409Arg
ENST00000681290.1:c.13182C>G	ENSP00000505288.1:p.Ser4394Arg
ENST00000265104.4:c.13227C>G	ENSP00000265104.4:p.Ser4409Arg
NM_001369.2:c.13227C>G	NP_001360.1:p.Ser4409Arg
XM_005248262.2:c.13182C>G	XP_005248319.1:p.Ser4394Arg
XM_005248262.3:c.13335C>G	XP_005248319.2:p.Ser4445Arg
XM_017009177.1:c.12915C>G	XP_016864666.1:p.Ser4305Arg
XM_017009178.1:c.12240C>G	XP_016864667.1:p.Ser4080Arg
XM_017009179.2:c.12240C>G	XP_016864668.1:p.Ser4080Arg
XM_017009185.1:c.8424C>G	XP_016864674.1:p.Ser2808Arg
XM_017009186.1:c.7977C>G	XP_016864675.1:p.Ser2659Arg
XM_017009188.1:c.7314C>G	XP_016864677.1:p.Ser2438Arg
XM_024454388.1:c.12240C>G	XP_024310156.1:p.Ser4080Arg
XM_024454389.1:c.11829C>G	XP_024310157.1:p.Ser3943Arg
NM_001369.3:c.13227C>G MANE Select	NP_001360.1:p.Ser4409Arg