Canonical Allele Identifier: CA3202831

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 861170
• ClinVar RCV Id: RCV001067629
• dbSNP Id: rs199629940
• ExAC: 5:13792141 T / C
• gnomAD v2: 5-13792141-T-C
• gnomAD v3: 5-13792032-T-C
• gnomAD v4: 5-13792032-T-C
• MyVariant Identifiers: chr5:g.13792141T>C (hg19) ; chr5:g.13792032T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792032T>C , CM000667.2:g.13792032T>C	GRCh38
NC_000005.9:g.13792141T>C , CM000667.1:g.13792141T>C	GRCh37
NC_000005.8:g.13845141T>C	NCBI36
NG_013081.1:g.157449A>G
NG_013081.2:g.157449A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8410A>G MANE Select	ENSP00000265104.4:p.Met2804Val
ENST00000681290.1:c.8365A>G	ENSP00000505288.1:p.Met2789Val
ENST00000265104.4:c.8410A>G	ENSP00000265104.4:p.Met2804Val
NM_001369.2:c.8410A>G	NP_001360.1:p.Met2804Val
XM_005248262.2:c.8365A>G	XP_005248319.1:p.Met2789Val
XM_011513990.1:c.8410A>G	XP_011512292.1:p.Met2804Val
XR_925598.1:n.8617A>G
XM_005248262.3:c.8518A>G	XP_005248319.2:p.Met2840Val
XM_017009177.1:c.8518A>G	XP_016864666.1:p.Met2840Val
XM_017009178.1:c.7423A>G	XP_016864667.1:p.Met2475Val
XM_017009179.2:c.7423A>G	XP_016864668.1:p.Met2475Val
XM_017009180.1:c.8518A>G	XP_016864669.1:p.Met2840Val
XM_017009181.1:c.8518A>G	XP_016864670.1:p.Met2840Val
XM_017009182.1:c.8518A>G	XP_016864671.1:p.Met2840Val
XM_017009183.1:c.8518A>G	XP_016864672.1:p.Met2840Val
XM_017009184.1:c.8518A>G	XP_016864673.1:p.Met2840Val
XM_017009185.1:c.3607A>G	XP_016864674.1:p.Met1203Val
XM_017009186.1:c.3160A>G	XP_016864675.1:p.Met1054Val
XM_017009188.1:c.2497A>G	XP_016864677.1:p.Met833Val
XM_024454388.1:c.7423A>G	XP_024310156.1:p.Met2475Val
XM_024454389.1:c.7012A>G	XP_024310157.1:p.Met2338Val
XR_001742034.1:n.8535A>G
XR_001742035.1:n.8535A>G
NM_001369.3:c.8410A>G MANE Select	NP_001360.1:p.Met2804Val