Canonical Allele Identifier: CA404760612
Gene: INSL3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.17927693T>G (hg19) chr19:g.17816884T>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000317306.8:c.366A>C MANE Select ENSP00000321724.6:p.Gln122His
ENST00000317306.7:c.366A>C ENSP00000321724.6:p.Gln122His
ENST00000379695.5:c.461A>C ENSP00000369017.4:p.Asn154Thr
ENST00000598577.1:c.387A>C
NM_001265587.1:c.461A>C NP_001252516.1:p.Asn154Thr
NM_005543.3:c.366A>C NP_005534.2:p.Gln122His
NM_001265587.2:c.461A>C NP_001252516.1:p.Asn154Thr
NM_005543.4:c.366A>C MANE Select NP_005534.2:p.Gln122His
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