Canonical Allele Identifier: CA2706537

Gene: GHSR

Linked Data

• ClinVar Variation Id: 2191002
• ClinVar RCV Id: RCV002628359
• dbSNP Id: rs200380996
• ExAC: 3:172166107 C / T
• gnomAD v2: 3-172166107-C-T
• gnomAD v3: 3-172448317-C-T
• gnomAD v4: 3-172448317-C-T
• MyVariant Identifiers: chr3:g.172166107C>T (hg19) ; chr3:g.172448317C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.172448317C>T , CM000665.2:g.172448317C>T	GRCh38
NC_000003.11:g.172166107C>T , CM000665.1:g.172166107C>T	GRCh37
NC_000003.10:g.173648801C>T	NCBI36
NG_021159.1:g.5140G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241256.3:c.97G>A MANE Select	ENSP00000241256.2:p.Glu33Lys
ENST00000241256.2:c.97G>A	ENSP00000241256.2:p.Glu33Lys
ENST00000427970.1:c.97G>A	ENSP00000395344.1:p.Glu33Lys
NM_004122.2:c.97G>A	NP_004113.1:p.Glu33Lys
NM_198407.2:c.97G>A MANE Select	NP_940799.1:p.Glu33Lys