Canonical Allele Identifier: CA306111418

Gene: INSL3

Linked Data

• dbSNP Id: rs904823320
• gnomAD v2: 19-17928926-C-T
• gnomAD v3: 19-17818117-C-T
• gnomAD v4: 19-17818117-C-T
• MyVariant Identifiers: chr19:g.17928926C>T (hg19) ; chr19:g.17818117C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17818117C>T , CM000681.2:g.17818117C>T	GRCh38
NC_000019.9:g.17928926C>T , CM000681.1:g.17928926C>T	GRCh37
NC_000019.8:g.17789926C>T	NCBI36
NG_012092.1:g.8395G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000317306.8:c.191-1058G>A MANE Select	ENSP00000321724.6:n.191-1058G>A
ENST00000317306.7:c.191-1058G>A	ENSP00000321724.6:n.191-1058G>A
ENST00000379695.5:c.286-1058G>A	ENSP00000369017.4:n.286-1058G>A
ENST00000598577.1:c.190-1036G>A
NM_001265587.1:c.286-1058G>A	NP_001252516.1:n.286-1058G>A
NM_005543.3:c.191-1058G>A	NP_005534.2:n.191-1058G>A
NM_001265587.2:c.286-1058G>A	NP_001252516.1:n.286-1058G>A
NM_005543.4:c.191-1058G>A MANE Select	NP_005534.2:n.191-1058G>A