Canonical Allele Identifier: CA306110389
Gene: INSL3 HGNC NCBI

Linked Data

dbSNP Id: rs533431953
gnomAD v3: 19-17816765-G-A
gnomAD v4: 19-17816765-G-A
MyVariant Identifiers: chr19:g.17927574G>A (hg19) chr19:g.17816765G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17816765G>A , CM000681.2:g.17816765G>A GRCh38
NC_000019.9:g.17927574G>A , CM000681.1:g.17927574G>A GRCh37
NC_000019.8:g.17788574G>A NCBI36
NG_012092.1:g.9747C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317306.8:c.*89C>T MANE Select ENSP00000321724.6:n.*89C>T
ENST00000317306.7:c.*89C>T ENSP00000321724.6:n.*89C>T
ENST00000379695.5:c.*106C>T ENSP00000369017.4:n.*106C>T
ENST00000598577.1:c.506C>T
NM_001265587.1:c.*106C>T NP_001252516.1:n.*106C>T
NM_005543.3:c.*89C>T NP_005534.2:n.*89C>T
NM_001265587.2:c.*106C>T NP_001252516.1:n.*106C>T
NM_005543.4:c.*89C>T MANE Select NP_005534.2:n.*89C>T
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