Canonical Allele Identifier: CA357054555

Gene: GNRHR

Linked Data

• ClinVar Variation Id: 2009505
• ClinVar RCV Id: RCV002838481
• MyVariant Identifiers: chr4:g.68619638C>A (hg19) ; chr4:g.67753920C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.67753920C>A , CM000666.2:g.67753920C>A	GRCh38
NC_000004.11:g.68619638C>A , CM000666.1:g.68619638C>A	GRCh37
NC_000004.10:g.68302233C>A	NCBI36
NG_009293.1:g.7167G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226413.5:c.416G>T MANE Select	ENSP00000226413.5:p.Arg139Leu
ENST00000226413.4:c.416G>T	ENSP00000226413.4:p.Arg139Leu
ENST00000420975.2:c.416G>T	ENSP00000397561.2:p.Arg139Leu
NM_000406.2:c.416G>T	NP_000397.1:p.Arg139Leu
NM_001012763.1:c.416G>T	NP_001012781.1:p.Arg139Leu
NM_000406.3:c.416G>T MANE Select	NP_000397.1:p.Arg139Leu
NM_001012763.2:c.416G>T	NP_001012781.1:p.Arg139Leu