Canonical Allele Identifier: CA3204701

Gene: DNAH5

Linked Data

• dbSNP Id: rs371236147
• ExAC: 5:13901425 T / C
• gnomAD v2: 5-13901425-T-C
• gnomAD v3: 5-13901316-T-C
• gnomAD v4: 5-13901316-T-C
• MyVariant Identifiers: chr5:g.13901425T>C (hg19) ; chr5:g.13901316T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13901316T>C , CM000667.2:g.13901316T>C	GRCh38
NC_000005.9:g.13901425T>C , CM000667.1:g.13901425T>C	GRCh37
NC_000005.8:g.13954425T>C	NCBI36
NG_013081.1:g.48165A>G
NG_013081.2:g.48165A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.1988A>G MANE Select	ENSP00000265104.4:p.Tyr663Cys
ENST00000681290.1:c.1943A>G	ENSP00000505288.1:p.Tyr648Cys
ENST00000265104.4:c.1988A>G	ENSP00000265104.4:p.Tyr663Cys
NM_001369.2:c.1988A>G	NP_001360.1:p.Tyr663Cys
XM_005248262.2:c.1943A>G	XP_005248319.1:p.Tyr648Cys
XM_011513990.1:c.1988A>G	XP_011512292.1:p.Tyr663Cys
XR_925598.1:n.2195A>G
XM_005248262.3:c.2096A>G	XP_005248319.2:p.Tyr699Cys
XM_017009177.1:c.2096A>G	XP_016864666.1:p.Tyr699Cys
XM_017009178.1:c.1001A>G	XP_016864667.1:p.Tyr334Cys
XM_017009179.2:c.1001A>G	XP_016864668.1:p.Tyr334Cys
XM_017009180.1:c.2096A>G	XP_016864669.1:p.Tyr699Cys
XM_017009181.1:c.2096A>G	XP_016864670.1:p.Tyr699Cys
XM_017009182.1:c.2096A>G	XP_016864671.1:p.Tyr699Cys
XM_017009183.1:c.2096A>G	XP_016864672.1:p.Tyr699Cys
XM_017009184.1:c.2096A>G	XP_016864673.1:p.Tyr699Cys
XM_017009187.1:c.2096A>G	XP_016864676.1:p.Tyr699Cys
XM_024454388.1:c.1001A>G	XP_024310156.1:p.Tyr334Cys
XM_024454389.1:c.590A>G	XP_024310157.1:p.Tyr197Cys
XR_001742034.1:n.2113A>G
XR_001742035.1:n.2113A>G
NM_001369.3:c.1988A>G MANE Select	NP_001360.1:p.Tyr663Cys