Canonical Allele Identifier: CA9301295
Gene: INSL3 HGNC NCBI
COSMIC:
COSM438937 (not active)
MyVariant.info:
GRCh38 chr19:g.17821329T>C
GRCh37 chr19:g.17932138T>C
Revel Score:
ENST00000317306 (MANE Select) 0.236
ENST00000379695 0.236
gnomAD v2:
19:17932138 T / C
gnomAD v3:
19:17821329 T / C
gnomAD v4:
chr19-17821329-T-C
Joint Max Group AF 0.80976425 (AFR)
Genomes Max Group AF 0.80763895 (AFR)
Exomes Max Group AF 0.80735124 (AFR)
ClinVar RCV:
RCV001650727
RCV001730924
ClinVar Variation:
1253265
dbSNP:
6523
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17821329T>C , CM000681.2:g.17821329T>C GRCh38
NC_000019.9:g.17932138T>C , CM000681.1:g.17932138T>C GRCh37
NC_000019.8:g.17793138T>C NCBI36
NG_012092.1:g.5183A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317306.8:c.178A>G MANE Select ENSP00000321724.6:p.Thr60Ala
ENST00000317306.7:c.178A>G ENSP00000321724.6:p.Thr60Ala
ENST00000379695.5:c.178A>G ENSP00000369017.4:p.Thr60Ala
ENST00000598577.1:c.177A>G
NM_001265587.1:c.178A>G NP_001252516.1:p.Thr60Ala
NM_005543.3:c.178A>G NP_005534.2:p.Thr60Ala
NM_001265587.2:c.178A>G NP_001252516.1:p.Thr60Ala
NM_005543.4:c.178A>G MANE Select NP_005534.2:p.Thr60Ala
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