Canonical Allele Identifier: CA783867406
Gene: INSL3 HGNC NCBI

Linked Data

dbSNP Id: rs1407669404
gnomAD v3: 19-17816780-T-C
gnomAD v4: 19-17816780-T-C
MyVariant Identifiers: chr19:g.17927589T>C (hg19) chr19:g.17816780T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17816780T>C , CM000681.2:g.17816780T>C GRCh38
NC_000019.9:g.17927589T>C , CM000681.1:g.17927589T>C GRCh37
NC_000019.8:g.17788589T>C NCBI36
NG_012092.1:g.9732A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317306.8:c.*74A>G MANE Select ENSP00000321724.6:n.*74A>G
ENST00000317306.7:c.*74A>G ENSP00000321724.6:n.*74A>G
ENST00000379695.5:c.*91A>G ENSP00000369017.4:n.*91A>G
ENST00000598577.1:c.491A>G
NM_001265587.1:c.*91A>G NP_001252516.1:n.*91A>G
NM_005543.3:c.*74A>G NP_005534.2:n.*74A>G
NM_001265587.2:c.*91A>G NP_001252516.1:n.*91A>G
NM_005543.4:c.*74A>G MANE Select NP_005534.2:n.*74A>G
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