Canonical Allele Identifier: CA3203705

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 238980
• ClinVar RCV Id: RCV000234185 ; RCV002494641
• dbSNP Id: rs748763552
• ExAC: 5:13841995 A / G
• gnomAD v2: 5-13841995-A-G
• gnomAD v3: 5-13841886-A-G
• gnomAD v4: 5-13841886-A-G
• MyVariant Identifiers: chr5:g.13841995A>G (hg19) ; chr5:g.13841886A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841886A>G , CM000667.2:g.13841886A>G	GRCh38
NC_000005.9:g.13841995A>G , CM000667.1:g.13841995A>G	GRCh37
NC_000005.8:g.13894995A>G	NCBI36
NG_013081.1:g.107595T>C
NG_013081.2:g.107595T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5290T>C MANE Select	ENSP00000265104.4:p.Ser1764Pro
ENST00000681290.1:c.5245T>C	ENSP00000505288.1:p.Ser1749Pro
ENST00000265104.4:c.5290T>C	ENSP00000265104.4:p.Ser1764Pro
NM_001369.2:c.5290T>C	NP_001360.1:p.Ser1764Pro
XM_005248262.2:c.5245T>C	XP_005248319.1:p.Ser1749Pro
XM_011513990.1:c.5290T>C	XP_011512292.1:p.Ser1764Pro
XR_925598.1:n.5497T>C
XM_005248262.3:c.5398T>C	XP_005248319.2:p.Ser1800Pro
XM_017009177.1:c.5398T>C	XP_016864666.1:p.Ser1800Pro
XM_017009178.1:c.4303T>C	XP_016864667.1:p.Ser1435Pro
XM_017009179.2:c.4303T>C	XP_016864668.1:p.Ser1435Pro
XM_017009180.1:c.5398T>C	XP_016864669.1:p.Ser1800Pro
XM_017009181.1:c.5398T>C	XP_016864670.1:p.Ser1800Pro
XM_017009182.1:c.5398T>C	XP_016864671.1:p.Ser1800Pro
XM_017009183.1:c.5398T>C	XP_016864672.1:p.Ser1800Pro
XM_017009184.1:c.5398T>C	XP_016864673.1:p.Ser1800Pro
XM_017009185.1:c.487T>C	XP_016864674.1:p.Ser163Pro
XM_017009186.1:c.40T>C	XP_016864675.1:p.Ser14Pro
XM_017009187.1:c.5398T>C	XP_016864676.1:p.Ser1800Pro
XM_024454388.1:c.4303T>C	XP_024310156.1:p.Ser1435Pro
XM_024454389.1:c.3892T>C	XP_024310157.1:p.Ser1298Pro
XR_001742034.1:n.5415T>C
XR_001742035.1:n.5415T>C
NM_001369.3:c.5290T>C MANE Select	NP_001360.1:p.Ser1764Pro