Canonical Allele Identifier: CA203173

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 197978
• ClinVar RCV Id: RCV000179161 ; RCV000474676 ; RCV001151915
• dbSNP Id: rs76690956
• ExAC: 5:13776566 T / C
• gnomAD v2: 5-13776566-T-C
• gnomAD v3: 5-13776457-T-C
• gnomAD v4: 5-13776457-T-C
• MyVariant Identifiers: chr5:g.13776566T>C (hg19) ; chr5:g.13776457T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776457T>C , CM000667.2:g.13776457T>C	GRCh38
NC_000005.9:g.13776566T>C , CM000667.1:g.13776566T>C	GRCh37
NC_000005.8:g.13829566T>C	NCBI36
NG_013081.1:g.173024A>G
NG_013081.2:g.173024A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.9355A>G MANE Select	ENSP00000265104.4:p.Lys3119Glu
ENST00000681290.1:c.9310A>G	ENSP00000505288.1:p.Lys3104Glu
ENST00000265104.4:c.9355A>G	ENSP00000265104.4:p.Lys3119Glu
NM_001369.2:c.9355A>G	NP_001360.1:p.Lys3119Glu
XM_005248262.2:c.9310A>G	XP_005248319.1:p.Lys3104Glu
XM_005248262.3:c.9463A>G	XP_005248319.2:p.Lys3155Glu
XM_017009177.1:c.9463A>G	XP_016864666.1:p.Lys3155Glu
XM_017009178.1:c.8368A>G	XP_016864667.1:p.Lys2790Glu
XM_017009179.2:c.8368A>G	XP_016864668.1:p.Lys2790Glu
XM_017009180.1:c.9463A>G	XP_016864669.1:p.Lys3155Glu
XM_017009181.1:c.9463A>G	XP_016864670.1:p.Lys3155Glu
XM_017009182.1:c.9463A>G	XP_016864671.1:p.Lys3155Glu
XM_017009183.1:c.9463A>G	XP_016864672.1:p.Lys3155Glu
XM_017009185.1:c.4552A>G	XP_016864674.1:p.Lys1518Glu
XM_017009186.1:c.4105A>G	XP_016864675.1:p.Lys1369Glu
XM_017009188.1:c.3442A>G	XP_016864677.1:p.Lys1148Glu
XM_024454388.1:c.8368A>G	XP_024310156.1:p.Lys2790Glu
XM_024454389.1:c.7957A>G	XP_024310157.1:p.Lys2653Glu
NM_001369.3:c.9355A>G MANE Select	NP_001360.1:p.Lys3119Glu