Canonical Allele Identifier: CA3203278

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 351068
• ClinVar RCV Id: RCV000322718 ; RCV000807221
• dbSNP Id: rs78484669
• ExAC: 5:13820505 C / T
• gnomAD v2: 5-13820505-C-T
• gnomAD v3: 5-13820396-C-T
• gnomAD v4: 5-13820396-C-T
• MyVariant Identifiers: chr5:g.13820505C>T (hg19) ; chr5:g.13820396C>T (hg38)
• PubMed: PMID:16627867 ; PMID:17534128 ; PMID:19357118 ; PMID:25186273

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13820396C>T , CM000667.2:g.13820396C>T	GRCh38
NC_000005.9:g.13820505C>T , CM000667.1:g.13820505C>T	GRCh37
NC_000005.8:g.13873505C>T	NCBI36
NG_013081.1:g.129085G>A
NG_013081.2:g.129085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1722G>A
ENST00000265104.5:c.6791G>A MANE Select	ENSP00000265104.4:p.Ser2264Asn
ENST00000681290.1:c.6746G>A	ENSP00000505288.1:p.Ser2249Asn
ENST00000265104.4:c.6791G>A	ENSP00000265104.4:p.Ser2264Asn
NM_001369.2:c.6791G>A	NP_001360.1:p.Ser2264Asn
XM_005248262.2:c.6746G>A	XP_005248319.1:p.Ser2249Asn
XM_011513990.1:c.6791G>A	XP_011512292.1:p.Ser2264Asn
XR_925598.1:n.6998G>A
XM_005248262.3:c.6899G>A	XP_005248319.2:p.Ser2300Asn
XM_017009177.1:c.6899G>A	XP_016864666.1:p.Ser2300Asn
XM_017009178.1:c.5804G>A	XP_016864667.1:p.Ser1935Asn
XM_017009179.2:c.5804G>A	XP_016864668.1:p.Ser1935Asn
XM_017009180.1:c.6899G>A	XP_016864669.1:p.Ser2300Asn
XM_017009181.1:c.6899G>A	XP_016864670.1:p.Ser2300Asn
XM_017009182.1:c.6899G>A	XP_016864671.1:p.Ser2300Asn
XM_017009183.1:c.6899G>A	XP_016864672.1:p.Ser2300Asn
XM_017009184.1:c.6899G>A	XP_016864673.1:p.Ser2300Asn
XM_017009185.1:c.1988G>A	XP_016864674.1:p.Ser663Asn
XM_017009186.1:c.1541G>A	XP_016864675.1:p.Ser514Asn
XM_017009187.1:c.6899G>A	XP_016864676.1:p.Ser2300Asn
XM_017009188.1:c.878G>A	XP_016864677.1:p.Ser293Asn
XM_024454388.1:c.5804G>A	XP_024310156.1:p.Ser1935Asn
XM_024454389.1:c.5393G>A	XP_024310157.1:p.Ser1798Asn
XR_001742034.1:n.6916G>A
XR_001742035.1:n.6916G>A
NM_001369.3:c.6791G>A MANE Select	NP_001360.1:p.Ser2264Asn