Canonical Allele Identifier: CA404760581
Gene: INSL3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.17927681C>G (hg19) chr19:g.17816872C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17816872C>G , CM000681.2:g.17816872C>G GRCh38
NC_000019.9:g.17927681C>G , CM000681.1:g.17927681C>G GRCh37
NC_000019.8:g.17788681C>G NCBI36
NG_012092.1:g.9640G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000317306.8:c.378G>C MANE Select ENSP00000321724.6:p.Leu126=
ENST00000317306.7:c.378G>C ENSP00000321724.6:p.Leu126=
ENST00000379695.5:c.473G>C ENSP00000369017.4:p.Ter158Ser
ENST00000598577.1:c.399G>C
NM_001265587.1:c.473G>C NP_001252516.1:p.Ter158Ser
NM_005543.3:c.378G>C NP_005534.2:p.Leu126=
NM_001265587.2:c.473G>C NP_001252516.1:p.Ter158Ser
NM_005543.4:c.378G>C MANE Select NP_005534.2:p.Leu126=
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