Canonical Allele Identifier: CA404760610

Gene: INSL3

Linked Data

• MyVariant Identifiers: chr19:g.17927692G>T (hg19) ; chr19:g.17816883G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17816883G>T , CM000681.2:g.17816883G>T	GRCh38
NC_000019.9:g.17927692G>T , CM000681.1:g.17927692G>T	GRCh37
NC_000019.8:g.17788692G>T	NCBI36
NG_012092.1:g.9629C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317306.8:c.367C>A MANE Select	ENSP00000321724.6:p.Gln123Lys
ENST00000317306.7:c.367C>A	ENSP00000321724.6:p.Gln123Lys
ENST00000379695.5:c.462C>A	ENSP00000369017.4:p.Asn154Lys
ENST00000598577.1:c.388C>A
NM_001265587.1:c.462C>A	NP_001252516.1:p.Asn154Lys
NM_005543.3:c.367C>A	NP_005534.2:p.Gln123Lys
NM_001265587.2:c.462C>A	NP_001252516.1:p.Asn154Lys
NM_005543.4:c.367C>A MANE Select	NP_005534.2:p.Gln123Lys