Canonical Allele Identifier: CA8647503
Gene: LRRC59 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.50383002C>T
GRCh37 chr17:g.48460363C>T
Revel Score:
ENST00000225972 (MANE Select) 0.116
gnomAD v2:
17:48460363 C / T
gnomAD v3:
17:50383002 C / T
gnomAD v4:
chr17-50383002-C-T
Joint Max Group AF 0.00003666 (NFE)
Genomes Max Group AF 0.00006837 (EAS)
Exomes Max Group AF 0.00003804 (NFE)
ClinVar Allele:
2194262
ClinVar RCV:
RCV004079380
ClinVar Variation:
2210815
dbSNP:
201332762
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50383002C>T , CM000679.2:g.50383002C>T GRCh38
NC_000017.10:g.48460363C>T , CM000679.1:g.48460363C>T GRCh37
NC_000017.9:g.45815362C>T NCBI36
NG_029665.1:g.14783C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225972.8:c.910G>A MANE Select ENSP00000225972.7:p.Asp304Asn
ENST00000225972.7:c.910G>A ENSP00000225972.7:p.Asp304Asn
ENST00000503118.2:c.17+2116G>A
NM_018509.3:c.910G>A NP_060979.2:p.Asp304Asn
NM_018509.4:c.910G>A MANE Select NP_060979.2:p.Asp304Asn
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