Canonical Allele Identifier: CA3204514

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2489367
• ClinVar RCV Id: RCV003534993
• dbSNP Id: rs142386498
• ExAC: 5:13886084 T / C
• gnomAD v2: 5-13886084-T-C
• gnomAD v3: 5-13885975-T-C
• gnomAD v4: 5-13885975-T-C
• MyVariant Identifiers: chr5:g.13886084T>C (hg19) ; chr5:g.13885975T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13885975T>C , CM000667.2:g.13885975T>C	GRCh38
NC_000005.9:g.13886084T>C , CM000667.1:g.13886084T>C	GRCh37
NC_000005.8:g.13939084T>C	NCBI36
NG_013081.1:g.63506A>G
NG_013081.2:g.63506A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.2732A>G MANE Select	ENSP00000265104.4:p.Asn911Ser
ENST00000681290.1:c.2687A>G	ENSP00000505288.1:p.Asn896Ser
ENST00000265104.4:c.2732A>G	ENSP00000265104.4:p.Asn911Ser
NM_001369.2:c.2732A>G	NP_001360.1:p.Asn911Ser
XM_005248262.2:c.2687A>G	XP_005248319.1:p.Asn896Ser
XM_011513990.1:c.2732A>G	XP_011512292.1:p.Asn911Ser
XR_925598.1:n.2939A>G
XM_005248262.3:c.2840A>G	XP_005248319.2:p.Asn947Ser
XM_017009177.1:c.2840A>G	XP_016864666.1:p.Asn947Ser
XM_017009178.1:c.1745A>G	XP_016864667.1:p.Asn582Ser
XM_017009179.2:c.1745A>G	XP_016864668.1:p.Asn582Ser
XM_017009180.1:c.2840A>G	XP_016864669.1:p.Asn947Ser
XM_017009181.1:c.2840A>G	XP_016864670.1:p.Asn947Ser
XM_017009182.1:c.2840A>G	XP_016864671.1:p.Asn947Ser
XM_017009183.1:c.2840A>G	XP_016864672.1:p.Asn947Ser
XM_017009184.1:c.2840A>G	XP_016864673.1:p.Asn947Ser
XM_017009187.1:c.2840A>G	XP_016864676.1:p.Asn947Ser
XM_024454388.1:c.1745A>G	XP_024310156.1:p.Asn582Ser
XM_024454389.1:c.1334A>G	XP_024310157.1:p.Asn445Ser
XR_001742034.1:n.2857A>G
XR_001742035.1:n.2857A>G
NM_001369.3:c.2732A>G MANE Select	NP_001360.1:p.Asn911Ser