Canonical Allele Identifier: CA210732

Gene: INSL3

Linked Data

• ClinVar Variation Id: 14832
• ClinVar RCV Id: RCV000015957 ; RCV002247347
• dbSNP Id: rs121912556
• ExAC: 19:17927754 C / T
• gnomAD v2: 19-17927754-C-T
• gnomAD v3: 19-17816945-C-T
• gnomAD v4: 19-17816945-C-T
• MyVariant Identifiers: chr19:g.17927754C>T (hg19) ; chr19:g.17816945C>T (hg38)
• PubMed: PMID:12970298

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17816945C>T , CM000681.2:g.17816945C>T	GRCh38
NC_000019.9:g.17927754C>T , CM000681.1:g.17927754C>T	GRCh37
NC_000019.8:g.17788754C>T	NCBI36
NG_012092.1:g.9567G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317306.8:c.305G>A MANE Select	ENSP00000321724.6:p.Arg102His
ENST00000317306.7:c.305G>A	ENSP00000321724.6:p.Arg102His
ENST00000379695.5:c.400G>A	ENSP00000369017.4:p.Ala134Thr
ENST00000598577.1:c.326G>A
NM_001265587.1:c.400G>A	NP_001252516.1:p.Ala134Thr
NM_005543.3:c.305G>A	NP_005534.2:p.Arg102His
NM_001265587.2:c.400G>A	NP_001252516.1:p.Ala134Thr
NM_005543.4:c.305G>A MANE Select	NP_005534.2:p.Arg102His