Canonical Allele Identifier: CA359208465

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717621G>C (hg19) ; chr5:g.13717512G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717512G>C , CM000667.2:g.13717512G>C	GRCh38
NC_000005.9:g.13717621G>C , CM000667.1:g.13717621G>C	GRCh37
NC_000005.8:g.13770621G>C	NCBI36
NG_013081.1:g.231969C>G
NG_013081.2:g.231969C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12508C>G MANE Select	ENSP00000265104.4:p.Gln4170Glu
ENST00000681290.1:c.12463C>G	ENSP00000505288.1:p.Gln4155Glu
ENST00000265104.4:c.12508C>G	ENSP00000265104.4:p.Gln4170Glu
NM_001369.2:c.12508C>G	NP_001360.1:p.Gln4170Glu
XM_005248262.2:c.12463C>G	XP_005248319.1:p.Gln4155Glu
XM_005248262.3:c.12616C>G	XP_005248319.2:p.Gln4206Glu
XM_017009177.1:c.12616C>G	XP_016864666.1:p.Gln4206Glu
XM_017009178.1:c.11521C>G	XP_016864667.1:p.Gln3841Glu
XM_017009179.2:c.11521C>G	XP_016864668.1:p.Gln3841Glu
XM_017009180.1:c.12616C>G	XP_016864669.1:p.Gln4206Glu
XM_017009185.1:c.7705C>G	XP_016864674.1:p.Gln2569Glu
XM_017009186.1:c.7258C>G	XP_016864675.1:p.Gln2420Glu
XM_017009188.1:c.6595C>G	XP_016864677.1:p.Gln2199Glu
XM_024454388.1:c.11521C>G	XP_024310156.1:p.Gln3841Glu
XM_024454389.1:c.11110C>G	XP_024310157.1:p.Gln3704Glu
NM_001369.3:c.12508C>G MANE Select	NP_001360.1:p.Gln4170Glu