Canonical Allele Identifier: CA404760587
Gene: INSL3 HGNC NCBI

Linked Data

gnomAD v4: 19-17816875-C-A
MyVariant Identifiers: chr19:g.17927684C>A (hg19) chr19:g.17816875C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17816875C>A , CM000681.2:g.17816875C>A GRCh38
NC_000019.9:g.17927684C>A , CM000681.1:g.17927684C>A GRCh37
NC_000019.8:g.17788684C>A NCBI36
NG_012092.1:g.9637G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317306.8:c.375G>T MANE Select ENSP00000321724.6:p.Leu125=
ENST00000317306.7:c.375G>T ENSP00000321724.6:p.Leu125=
ENST00000379695.5:c.470G>T ENSP00000369017.4:p.Cys157Phe
ENST00000598577.1:c.396G>T
NM_001265587.1:c.470G>T NP_001252516.1:p.Cys157Phe
NM_005543.3:c.375G>T NP_005534.2:p.Leu125=
NM_001265587.2:c.470G>T NP_001252516.1:p.Cys157Phe
NM_005543.4:c.375G>T MANE Select NP_005534.2:p.Leu125=
Search 100 bp 5'
Search 100 bp 3'