Canonical Allele Identifier: CA404760596

Gene: INSL3

Linked Data

• MyVariant Identifiers: chr19:g.17927688T>A (hg19) ; chr19:g.17816879T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17816879T>A , CM000681.2:g.17816879T>A	GRCh38
NC_000019.9:g.17927688T>A , CM000681.1:g.17927688T>A	GRCh37
NC_000019.8:g.17788688T>A	NCBI36
NG_012092.1:g.9633A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317306.8:c.371A>T MANE Select	ENSP00000321724.6:p.Asp124Val
ENST00000317306.7:c.371A>T	ENSP00000321724.6:p.Asp124Val
ENST00000379695.5:c.466A>T	ENSP00000369017.4:p.Thr156Ser
ENST00000598577.1:c.392A>T
NM_001265587.1:c.466A>T	NP_001252516.1:p.Thr156Ser
NM_005543.3:c.371A>T	NP_005534.2:p.Asp124Val
NM_001265587.2:c.466A>T	NP_001252516.1:p.Thr156Ser
NM_005543.4:c.371A>T MANE Select	NP_005534.2:p.Asp124Val