Canonical Allele Identifier: CA10615311

Gene: GHSR

Linked Data

• ClinVar Variation Id: 344186
• ClinVar RCV Id: RCV000309992
• dbSNP Id: rs565105
• gnomAD v2: 3-172162117-G-T
• gnomAD v3: 3-172444327-G-T
• gnomAD v4: 3-172444327-G-T
• MyVariant Identifiers: chr3:g.172162117G>T (hg19) ; chr3:g.172444327G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.172444327G>T , CM000665.2:g.172444327G>T	GRCh38
NC_000003.11:g.172162117G>T , CM000665.1:g.172162117G>T	GRCh37
NC_000003.10:g.173644811G>T	NCBI36
NG_021159.1:g.9130C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241256.3:c.*834C>A MANE Select	ENSP00000241256.2:n.*834C>A
NM_198407.2:c.*834C>A MANE Select	NP_940799.1:n.*834C>A