Canonical Allele Identifier: CA359204749

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13770983A>C (hg19) ; chr5:g.13770874A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770874A>C , CM000667.2:g.13770874A>C	GRCh38
NC_000005.9:g.13770983A>C , CM000667.1:g.13770983A>C	GRCh37
NC_000005.8:g.13823983A>C	NCBI36
NG_013081.1:g.178607T>G
NG_013081.2:g.178607T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9480T>G MANE Select	ENSP00000265104.4:p.Cys3160Trp
ENST00000681290.1:c.9435T>G	ENSP00000505288.1:p.Cys3145Trp
ENST00000265104.4:c.9480T>G	ENSP00000265104.4:p.Cys3160Trp
ENST00000504001.3:n.192T>G
NM_001369.2:c.9480T>G	NP_001360.1:p.Cys3160Trp
XM_005248262.2:c.9435T>G	XP_005248319.1:p.Cys3145Trp
XM_005248262.3:c.9588T>G	XP_005248319.2:p.Cys3196Trp
XM_017009177.1:c.9588T>G	XP_016864666.1:p.Cys3196Trp
XM_017009178.1:c.8493T>G	XP_016864667.1:p.Cys2831Trp
XM_017009179.2:c.8493T>G	XP_016864668.1:p.Cys2831Trp
XM_017009180.1:c.9588T>G	XP_016864669.1:p.Cys3196Trp
XM_017009181.1:c.9588T>G	XP_016864670.1:p.Cys3196Trp
XM_017009182.1:c.9588T>G	XP_016864671.1:p.Cys3196Trp
XM_017009183.1:c.9588T>G	XP_016864672.1:p.Cys3196Trp
XM_017009185.1:c.4677T>G	XP_016864674.1:p.Cys1559Trp
XM_017009186.1:c.4230T>G	XP_016864675.1:p.Cys1410Trp
XM_017009188.1:c.3567T>G	XP_016864677.1:p.Cys1189Trp
XM_024454388.1:c.8493T>G	XP_024310156.1:p.Cys2831Trp
XM_024454389.1:c.8082T>G	XP_024310157.1:p.Cys2694Trp
NM_001369.3:c.9480T>G MANE Select	NP_001360.1:p.Cys3160Trp