Canonical Allele Identifier: CA994096631
Gene: INSL3 HGNC NCBI

Linked Data

dbSNP Id: rs2059718025
gnomAD v3: 19-17816779-C-T
gnomAD v4: 19-17816779-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17816779C>T , CM000681.2:g.17816779C>T GRCh38
NC_000019.9:g.17927588C>T , CM000681.1:g.17927588C>T GRCh37
NC_000019.8:g.17788588C>T NCBI36
NG_012092.1:g.9733G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000317306.8:c.*75G>A MANE Select ENSP00000321724.6:n.*75G>A
ENST00000317306.7:c.*75G>A ENSP00000321724.6:n.*75G>A
ENST00000379695.5:c.*92G>A ENSP00000369017.4:n.*92G>A
ENST00000598577.1:c.492G>A
NM_001265587.1:c.*92G>A NP_001252516.1:n.*92G>A
NM_005543.3:c.*75G>A NP_005534.2:n.*75G>A
NM_001265587.2:c.*92G>A NP_001252516.1:n.*92G>A
NM_005543.4:c.*75G>A MANE Select NP_005534.2:n.*75G>A
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