Canonical Allele Identifier: CA404760588
Gene: INSL3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.17927684C>G (hg19) chr19:g.17816875C>G (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000317306.8:c.375G>C MANE Select ENSP00000321724.6:p.Leu125=
ENST00000317306.7:c.375G>C ENSP00000321724.6:p.Leu125=
ENST00000379695.5:c.470G>C ENSP00000369017.4:p.Cys157Ser
ENST00000598577.1:c.396G>C
NM_001265587.1:c.470G>C NP_001252516.1:p.Cys157Ser
NM_005543.3:c.375G>C NP_005534.2:p.Leu125=
NM_001265587.2:c.470G>C NP_001252516.1:p.Cys157Ser
NM_005543.4:c.375G>C MANE Select NP_005534.2:p.Leu125=
Search 100 bp 5'
Search 100 bp 3'