Canonical Allele Identifier: CA3202937

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 351056
• ClinVar RCV Id: RCV000339853 ; RCV001861248
• dbSNP Id: rs770090882
• ExAC: 5:13794049 T / A
• gnomAD v2: 5-13794049-T-A
• gnomAD v3: 5-13793940-T-A
• gnomAD v4: 5-13793940-T-A
• MyVariant Identifiers: chr5:g.13794049T>A (hg19) ; chr5:g.13793940T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793940T>A , CM000667.2:g.13793940T>A	GRCh38
NC_000005.9:g.13794049T>A , CM000667.1:g.13794049T>A	GRCh37
NC_000005.8:g.13847049T>A	NCBI36
NG_013081.1:g.155541A>T
NG_013081.2:g.155541A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.8006A>T MANE Select	ENSP00000265104.4:p.Asp2669Val
ENST00000681290.1:c.7961A>T	ENSP00000505288.1:p.Asp2654Val
ENST00000265104.4:c.8006A>T	ENSP00000265104.4:p.Asp2669Val
NM_001369.2:c.8006A>T	NP_001360.1:p.Asp2669Val
XM_005248262.2:c.7961A>T	XP_005248319.1:p.Asp2654Val
XM_011513990.1:c.8006A>T	XP_011512292.1:p.Asp2669Val
XR_925598.1:n.8213A>T
XM_005248262.3:c.8114A>T	XP_005248319.2:p.Asp2705Val
XM_017009177.1:c.8114A>T	XP_016864666.1:p.Asp2705Val
XM_017009178.1:c.7019A>T	XP_016864667.1:p.Asp2340Val
XM_017009179.2:c.7019A>T	XP_016864668.1:p.Asp2340Val
XM_017009180.1:c.8114A>T	XP_016864669.1:p.Asp2705Val
XM_017009181.1:c.8114A>T	XP_016864670.1:p.Asp2705Val
XM_017009182.1:c.8114A>T	XP_016864671.1:p.Asp2705Val
XM_017009183.1:c.8114A>T	XP_016864672.1:p.Asp2705Val
XM_017009184.1:c.8114A>T	XP_016864673.1:p.Asp2705Val
XM_017009185.1:c.3203A>T	XP_016864674.1:p.Asp1068Val
XM_017009186.1:c.2756A>T	XP_016864675.1:p.Asp919Val
XM_017009188.1:c.2093A>T	XP_016864677.1:p.Asp698Val
XM_024454388.1:c.7019A>T	XP_024310156.1:p.Asp2340Val
XM_024454389.1:c.6608A>T	XP_024310157.1:p.Asp2203Val
XR_001742034.1:n.8131A>T
XR_001742035.1:n.8131A>T
NM_001369.3:c.8006A>T MANE Select	NP_001360.1:p.Asp2669Val