Canonical Allele Identifier: CA359216913

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13916539G>C (hg19) ; chr5:g.13916430G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13916430G>C , CM000667.2:g.13916430G>C	GRCh38
NC_000005.9:g.13916539G>C , CM000667.1:g.13916539G>C	GRCh37
NC_000005.8:g.13969539G>C	NCBI36
NG_013081.1:g.33051C>G
NG_013081.2:g.33051C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000680213.2:n.1171C>G
ENST00000682376.1:n.3078C>G
ENST00000683011.1:n.1054C>G
ENST00000683967.1:n.1214C>G
ENST00000684013.1:n.1214C>G
ENST00000684099.1:n.1210C>G
ENST00000265104.5:c.1115C>G MANE Select	ENSP00000265104.4:p.Thr372Arg
ENST00000680213.1:c.875C>G	ENSP00000506622.1:p.Thr292Arg
ENST00000681290.1:c.1070C>G	ENSP00000505288.1:p.Thr357Arg
ENST00000265104.4:c.1115C>G	ENSP00000265104.4:p.Thr372Arg
ENST00000508040.1:n.1523C>G
NM_001369.2:c.1115C>G	NP_001360.1:p.Thr372Arg
XM_005248262.2:c.1070C>G	XP_005248319.1:p.Thr357Arg
XM_011513990.1:c.1115C>G	XP_011512292.1:p.Thr372Arg
XR_925598.1:n.1322C>G
XM_005248262.3:c.1223C>G	XP_005248319.2:p.Thr408Arg
XM_017009177.1:c.1223C>G	XP_016864666.1:p.Thr408Arg
XM_017009178.1:c.128C>G	XP_016864667.1:p.Thr43Arg
XM_017009179.2:c.128C>G	XP_016864668.1:p.Thr43Arg
XM_017009180.1:c.1223C>G	XP_016864669.1:p.Thr408Arg
XM_017009181.1:c.1223C>G	XP_016864670.1:p.Thr408Arg
XM_017009182.1:c.1223C>G	XP_016864671.1:p.Thr408Arg
XM_017009183.1:c.1223C>G	XP_016864672.1:p.Thr408Arg
XM_017009184.1:c.1223C>G	XP_016864673.1:p.Thr408Arg
XM_017009187.1:c.1223C>G	XP_016864676.1:p.Thr408Arg
XM_024454388.1:c.128C>G	XP_024310156.1:p.Thr43Arg
XM_024454389.1:c.-845C>G	XP_024310157.1:n.-845C>G
XR_001742034.1:n.1240C>G
XR_001742035.1:n.1240C>G
NM_001369.3:c.1115C>G MANE Select	NP_001360.1:p.Thr372Arg