Canonical Allele Identifier: CA9301223
Gene: INSL3 HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid change
ENST00000317306.8:c.372C>A MANE Select ENSP00000321724.6:p.Asp124Glu
ENST00000317306.7:c.372C>A ENSP00000321724.6:p.Asp124Glu
ENST00000379695.5:c.467C>A ENSP00000369017.4:p.Thr156Asn
ENST00000598577.1:c.393C>A
NM_001265587.1:c.467C>A NP_001252516.1:p.Thr156Asn
NM_005543.3:c.372C>A NP_005534.2:p.Asp124Glu
NM_001265587.2:c.467C>A NP_001252516.1:p.Thr156Asn
NM_005543.4:c.372C>A MANE Select NP_005534.2:p.Asp124Glu
Search 100 bp 5'
Search 100 bp 3'