Canonical Allele Identifier: CA365034059
Gene: TENT5A HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.81751762T>C
GRCh37 chr6:g.82461479T>C
Revel Score:
ENST00000369754 0.760
ENST00000320172 (MANE Select) 0.760
ENST00000369756 0.760
ClinVar RCV:
RCV000626326
ClinVar Variation:
523122
dbSNP:
1187611948
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.81751762T>C , CM000668.2:g.81751762T>C GRCh38
NC_000006.11:g.82461479T>C , CM000668.1:g.82461479T>C GRCh37
NC_000006.10:g.82518198T>C NCBI36
NG_056210.1:g.5950A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320172.11:c.380A>G MANE Select ENSP00000318298.6:p.His127Arg
ENST00000320172.10:c.380A>G ENSP00000318298.6:p.His127Arg
ENST00000369754.7:c.437A>G ENSP00000358769.3:p.His146Arg
ENST00000369756.3:c.623A>G ENSP00000358771.3:p.His208Arg
ENST00000412306.1:c.51A>G
NM_017633.2:c.380A>G NP_060103.2:p.His127Arg
NM_017633.3:c.380A>G MANE Select NP_060103.2:p.His127Arg
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