Canonical Allele Identifier: CA3204517

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 258015
• ClinVar RCV Id: RCV000253527 ; RCV000456241 ; RCV002519906
• dbSNP Id: rs749503841
• ExAC: 5:13886108 T / G
• gnomAD v2: 5-13886108-T-G
• gnomAD v3: 5-13885999-T-G
• gnomAD v4: 5-13885999-T-G
• MyVariant Identifiers: chr5:g.13886108T>G (hg19) ; chr5:g.13885999T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13885999T>G , CM000667.2:g.13885999T>G	GRCh38
NC_000005.9:g.13886108T>G , CM000667.1:g.13886108T>G	GRCh37
NC_000005.8:g.13939108T>G	NCBI36
NG_013081.1:g.63482A>C
NG_013081.2:g.63482A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.2708A>C MANE Select	ENSP00000265104.4:p.Asn903Thr
ENST00000681290.1:c.2663A>C	ENSP00000505288.1:p.Asn888Thr
ENST00000265104.4:c.2708A>C	ENSP00000265104.4:p.Asn903Thr
NM_001369.2:c.2708A>C	NP_001360.1:p.Asn903Thr
XM_005248262.2:c.2663A>C	XP_005248319.1:p.Asn888Thr
XM_011513990.1:c.2708A>C	XP_011512292.1:p.Asn903Thr
XR_925598.1:n.2915A>C
XM_005248262.3:c.2816A>C	XP_005248319.2:p.Asn939Thr
XM_017009177.1:c.2816A>C	XP_016864666.1:p.Asn939Thr
XM_017009178.1:c.1721A>C	XP_016864667.1:p.Asn574Thr
XM_017009179.2:c.1721A>C	XP_016864668.1:p.Asn574Thr
XM_017009180.1:c.2816A>C	XP_016864669.1:p.Asn939Thr
XM_017009181.1:c.2816A>C	XP_016864670.1:p.Asn939Thr
XM_017009182.1:c.2816A>C	XP_016864671.1:p.Asn939Thr
XM_017009183.1:c.2816A>C	XP_016864672.1:p.Asn939Thr
XM_017009184.1:c.2816A>C	XP_016864673.1:p.Asn939Thr
XM_017009187.1:c.2816A>C	XP_016864676.1:p.Asn939Thr
XM_024454388.1:c.1721A>C	XP_024310156.1:p.Asn574Thr
XM_024454389.1:c.1310A>C	XP_024310157.1:p.Asn437Thr
XR_001742034.1:n.2833A>C
XR_001742035.1:n.2833A>C
NM_001369.3:c.2708A>C MANE Select	NP_001360.1:p.Asn903Thr