Canonical Allele Identifier: CA3202674

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1648990
• ClinVar RCV Id: RCV002144117
• dbSNP Id: rs373899654
• ExAC: 5:13780968 C / T
• gnomAD v2: 5-13780968-C-T
• gnomAD v3: 5-13780859-C-T
• gnomAD v4: 5-13780859-C-T
• MyVariant Identifiers: chr5:g.13780968C>T (hg19) ; chr5:g.13780859C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780859C>T , CM000667.2:g.13780859C>T	GRCh38
NC_000005.9:g.13780968C>T , CM000667.1:g.13780968C>T	GRCh37
NC_000005.8:g.13833968C>T	NCBI36
NG_013081.1:g.168622G>A
NG_013081.2:g.168622G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.8921G>A MANE Select	ENSP00000265104.4:p.Gly2974Asp
ENST00000681290.1:c.8876G>A	ENSP00000505288.1:p.Gly2959Asp
ENST00000265104.4:c.8921G>A	ENSP00000265104.4:p.Gly2974Asp
NM_001369.2:c.8921G>A	NP_001360.1:p.Gly2974Asp
XM_005248262.2:c.8876G>A	XP_005248319.1:p.Gly2959Asp
XM_011513990.1:c.8921G>A	XP_011512292.1:p.Gly2974Asp
XR_925598.1:n.9028-3504G>A
XM_005248262.3:c.9029G>A	XP_005248319.2:p.Gly3010Asp
XM_017009177.1:c.9029G>A	XP_016864666.1:p.Gly3010Asp
XM_017009178.1:c.7934G>A	XP_016864667.1:p.Gly2645Asp
XM_017009179.2:c.7934G>A	XP_016864668.1:p.Gly2645Asp
XM_017009180.1:c.9029G>A	XP_016864669.1:p.Gly3010Asp
XM_017009181.1:c.9029G>A	XP_016864670.1:p.Gly3010Asp
XM_017009182.1:c.9029G>A	XP_016864671.1:p.Gly3010Asp
XM_017009183.1:c.9029G>A	XP_016864672.1:p.Gly3010Asp
XM_017009184.1:c.9029G>A	XP_016864673.1:p.Gly3010Asp
XM_017009185.1:c.4118G>A	XP_016864674.1:p.Gly1373Asp
XM_017009186.1:c.3671G>A	XP_016864675.1:p.Gly1224Asp
XM_017009188.1:c.3008G>A	XP_016864677.1:p.Gly1003Asp
XM_024454388.1:c.7934G>A	XP_024310156.1:p.Gly2645Asp
XM_024454389.1:c.7523G>A	XP_024310157.1:p.Gly2508Asp
XR_001742034.1:n.8946-3504G>A
XR_001742035.1:n.8946-3504G>A
NM_001369.3:c.8921G>A MANE Select	NP_001360.1:p.Gly2974Asp