Canonical Allele Identifier: CA404760616
Gene: INSL3 HGNC NCBI

Linked Data

dbSNP Id: rs368694033
gnomAD v2: 19-17927695-G-C
gnomAD v4: 19-17816886-G-C
MyVariant Identifiers: chr19:g.17927695G>C (hg19) chr19:g.17816886G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17816886G>C , CM000681.2:g.17816886G>C GRCh38
NC_000019.9:g.17927695G>C , CM000681.1:g.17927695G>C GRCh37
NC_000019.8:g.17788695G>C NCBI36
NG_012092.1:g.9626C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000317306.8:c.364C>G MANE Select ENSP00000321724.6:p.Gln122Glu
ENST00000317306.7:c.364C>G ENSP00000321724.6:p.Gln122Glu
ENST00000379695.5:c.459C>G ENSP00000369017.4:p.Pro153=
ENST00000598577.1:c.385C>G
NM_001265587.1:c.459C>G NP_001252516.1:p.Pro153=
NM_005543.3:c.364C>G NP_005534.2:p.Gln122Glu
NM_001265587.2:c.459C>G NP_001252516.1:p.Pro153=
NM_005543.4:c.364C>G MANE Select NP_005534.2:p.Gln122Glu
Search 100 bp 5'
Search 100 bp 3'