Canonical Allele Identifier: CA404760575
Gene: INSL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1049795
ClinVar RCV Id: RCV001356356
dbSNP Id: rs2147660403
MyVariant Identifiers: chr19:g.17927679G>C (hg19) chr19:g.17816870G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17816870G>C , CM000681.2:g.17816870G>C GRCh38
NC_000019.9:g.17927679G>C , CM000681.1:g.17927679G>C GRCh37
NC_000019.8:g.17788679G>C NCBI36
NG_012092.1:g.9642C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000317306.8:c.380C>G MANE Select ENSP00000321724.6:p.Thr127Ser
ENST00000317306.7:c.380C>G ENSP00000321724.6:p.Thr127Ser
ENST00000379695.5:c.*1C>G ENSP00000369017.4:n.*1C>G
ENST00000598577.1:c.401C>G
NM_001265587.1:c.*1C>G NP_001252516.1:n.*1C>G
NM_005543.3:c.380C>G NP_005534.2:p.Thr127Ser
NM_001265587.2:c.*1C>G NP_001252516.1:n.*1C>G
NM_005543.4:c.380C>G MANE Select NP_005534.2:p.Thr127Ser
Search 100 bp 5'
Search 100 bp 3'