Canonical Allele Identifier: CA359204873

Gene: DNAH5

Linked Data

• COSMIC: COSM378425
• MyVariant Identifiers: chr5:g.13771000C>A (hg19) ; chr5:g.13770891C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770891C>A , CM000667.2:g.13770891C>A	GRCh38
NC_000005.9:g.13771000C>A , CM000667.1:g.13771000C>A	GRCh37
NC_000005.8:g.13824000C>A	NCBI36
NG_013081.1:g.178590G>T
NG_013081.2:g.178590G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9463G>T MANE Select	ENSP00000265104.4:p.Gly3155Trp
ENST00000681290.1:c.9418G>T	ENSP00000505288.1:p.Gly3140Trp
ENST00000265104.4:c.9463G>T	ENSP00000265104.4:p.Gly3155Trp
ENST00000504001.3:n.175G>T
NM_001369.2:c.9463G>T	NP_001360.1:p.Gly3155Trp
XM_005248262.2:c.9418G>T	XP_005248319.1:p.Gly3140Trp
XM_005248262.3:c.9571G>T	XP_005248319.2:p.Gly3191Trp
XM_017009177.1:c.9571G>T	XP_016864666.1:p.Gly3191Trp
XM_017009178.1:c.8476G>T	XP_016864667.1:p.Gly2826Trp
XM_017009179.2:c.8476G>T	XP_016864668.1:p.Gly2826Trp
XM_017009180.1:c.9571G>T	XP_016864669.1:p.Gly3191Trp
XM_017009181.1:c.9571G>T	XP_016864670.1:p.Gly3191Trp
XM_017009182.1:c.9571G>T	XP_016864671.1:p.Gly3191Trp
XM_017009183.1:c.9571G>T	XP_016864672.1:p.Gly3191Trp
XM_017009185.1:c.4660G>T	XP_016864674.1:p.Gly1554Trp
XM_017009186.1:c.4213G>T	XP_016864675.1:p.Gly1405Trp
XM_017009188.1:c.3550G>T	XP_016864677.1:p.Gly1184Trp
XM_024454388.1:c.8476G>T	XP_024310156.1:p.Gly2826Trp
XM_024454389.1:c.8065G>T	XP_024310157.1:p.Gly2689Trp
NM_001369.3:c.9463G>T MANE Select	NP_001360.1:p.Gly3155Trp