Canonical Allele Identifier: CA404760583

Gene: INSL3

Linked Data

• MyVariant Identifiers: chr19:g.17927682A>G (hg19) ; chr19:g.17816873A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17816873A>G , CM000681.2:g.17816873A>G	GRCh38
NC_000019.9:g.17927682A>G , CM000681.1:g.17927682A>G	GRCh37
NC_000019.8:g.17788682A>G	NCBI36
NG_012092.1:g.9639T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317306.8:c.377T>C MANE Select	ENSP00000321724.6:p.Leu126Pro
ENST00000317306.7:c.377T>C	ENSP00000321724.6:p.Leu126Pro
ENST00000379695.5:c.472T>C	ENSP00000369017.4:p.Ter158Arg
ENST00000598577.1:c.398T>C
NM_001265587.1:c.472T>C	NP_001252516.1:p.Ter158Arg
NM_005543.3:c.377T>C	NP_005534.2:p.Leu126Pro
NM_001265587.2:c.472T>C	NP_001252516.1:p.Ter158Arg
NM_005543.4:c.377T>C MANE Select	NP_005534.2:p.Leu126Pro