Canonical Allele Identifier: CA404760611
Gene: INSL3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17816884T>A , CM000681.2:g.17816884T>A GRCh38
NC_000019.9:g.17927693T>A , CM000681.1:g.17927693T>A GRCh37
NC_000019.8:g.17788693T>A NCBI36
NG_012092.1:g.9628A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317306.8:c.366A>T MANE Select ENSP00000321724.6:p.Gln122His
ENST00000317306.7:c.366A>T ENSP00000321724.6:p.Gln122His
ENST00000379695.5:c.461A>T ENSP00000369017.4:p.Asn154Ile
ENST00000598577.1:c.387A>T
NM_001265587.1:c.461A>T NP_001252516.1:p.Asn154Ile
NM_005543.3:c.366A>T NP_005534.2:p.Gln122His
NM_001265587.2:c.461A>T NP_001252516.1:p.Asn154Ile
NM_005543.4:c.366A>T MANE Select NP_005534.2:p.Gln122His