Canonical Allele Identifier: CA3204519

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1117398
• ClinVar RCV Id: RCV001446100
• dbSNP Id: rs778689338
• ExAC: 5:13886110 G / A
• gnomAD v2: 5-13886110-G-A
• gnomAD v3: 5-13886001-G-A
• gnomAD v4: 5-13886001-G-A
• COSMIC: COSM4483490
• MyVariant Identifiers: chr5:g.13886110G>A (hg19) ; chr5:g.13886001G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13886001G>A , CM000667.2:g.13886001G>A	GRCh38
NC_000005.9:g.13886110G>A , CM000667.1:g.13886110G>A	GRCh37
NC_000005.8:g.13939110G>A	NCBI36
NG_013081.1:g.63480C>T
NG_013081.2:g.63480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.2706C>T MANE Select	ENSP00000265104.4:p.Ser902=
ENST00000681290.1:c.2661C>T	ENSP00000505288.1:p.Ser887=
ENST00000265104.4:c.2706C>T	ENSP00000265104.4:p.Ser902=
NM_001369.2:c.2706C>T	NP_001360.1:p.Ser902=
XM_005248262.2:c.2661C>T	XP_005248319.1:p.Ser887=
XM_011513990.1:c.2706C>T	XP_011512292.1:p.Ser902=
XR_925598.1:n.2913C>T
XM_005248262.3:c.2814C>T	XP_005248319.2:p.Ser938=
XM_017009177.1:c.2814C>T	XP_016864666.1:p.Ser938=
XM_017009178.1:c.1719C>T	XP_016864667.1:p.Ser573=
XM_017009179.2:c.1719C>T	XP_016864668.1:p.Ser573=
XM_017009180.1:c.2814C>T	XP_016864669.1:p.Ser938=
XM_017009181.1:c.2814C>T	XP_016864670.1:p.Ser938=
XM_017009182.1:c.2814C>T	XP_016864671.1:p.Ser938=
XM_017009183.1:c.2814C>T	XP_016864672.1:p.Ser938=
XM_017009184.1:c.2814C>T	XP_016864673.1:p.Ser938=
XM_017009187.1:c.2814C>T	XP_016864676.1:p.Ser938=
XM_024454388.1:c.1719C>T	XP_024310156.1:p.Ser573=
XM_024454389.1:c.1308C>T	XP_024310157.1:p.Ser436=
XR_001742034.1:n.2831C>T
XR_001742035.1:n.2831C>T
NM_001369.3:c.2706C>T MANE Select	NP_001360.1:p.Ser902=