Canonical Allele Identifier: CA359188785

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692244G>C (hg19) ; chr5:g.13692135G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692135G>C , CM000667.2:g.13692135G>C	GRCh38
NC_000005.9:g.13692244G>C , CM000667.1:g.13692244G>C	GRCh37
NC_000005.8:g.13745244G>C	NCBI36
NG_013081.1:g.257346C>G
NG_013081.2:g.257346C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1057C>G
ENST00000265104.5:c.13724C>G MANE Select	ENSP00000265104.4:p.Thr4575Ser
ENST00000681290.1:c.13679C>G	ENSP00000505288.1:p.Thr4560Ser
ENST00000265104.4:c.13724C>G	ENSP00000265104.4:p.Thr4575Ser
NM_001369.2:c.13724C>G	NP_001360.1:p.Thr4575Ser
XM_005248262.2:c.13679C>G	XP_005248319.1:p.Thr4560Ser
XM_005248262.3:c.13832C>G	XP_005248319.2:p.Thr4611Ser
XM_017009177.1:c.13412C>G	XP_016864666.1:p.Thr4471Ser
XM_017009178.1:c.12737C>G	XP_016864667.1:p.Thr4246Ser
XM_017009179.2:c.12737C>G	XP_016864668.1:p.Thr4246Ser
XM_017009185.1:c.8921C>G	XP_016864674.1:p.Thr2974Ser
XM_017009186.1:c.8474C>G	XP_016864675.1:p.Thr2825Ser
XM_017009188.1:c.7811C>G	XP_016864677.1:p.Thr2604Ser
XM_024454388.1:c.12737C>G	XP_024310156.1:p.Thr4246Ser
XM_024454389.1:c.12326C>G	XP_024310157.1:p.Thr4109Ser
NM_001369.3:c.13724C>G MANE Select	NP_001360.1:p.Thr4575Ser