Canonical Allele Identifier: CA9301222
Gene: INSL3 HGNC NCBI

Linked Data

dbSNP Id: rs200693684
ExAC: 19:17927687 G / C
gnomAD v2: 19-17927687-G-C
gnomAD v3: 19-17816878-G-C
gnomAD v4: 19-17816878-G-C
MyVariant Identifiers: chr19:g.17927687G>C (hg19) chr19:g.17816878G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17816878G>C , CM000681.2:g.17816878G>C GRCh38
NC_000019.9:g.17927687G>C , CM000681.1:g.17927687G>C GRCh37
NC_000019.8:g.17788687G>C NCBI36
NG_012092.1:g.9634C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317306.8:c.372C>G MANE Select ENSP00000321724.6:p.Asp124Glu
ENST00000317306.7:c.372C>G ENSP00000321724.6:p.Asp124Glu
ENST00000379695.5:c.467C>G ENSP00000369017.4:p.Thr156Ser
ENST00000598577.1:c.393C>G
NM_001265587.1:c.467C>G NP_001252516.1:p.Thr156Ser
NM_005543.3:c.372C>G NP_005534.2:p.Asp124Glu
NM_001265587.2:c.467C>G NP_001252516.1:p.Thr156Ser
NM_005543.4:c.372C>G MANE Select NP_005534.2:p.Asp124Glu
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