Canonical Allele Identifier: CA87785513
Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 756611
ClinVar RCV Id: RCV000934126
dbSNP Id: rs200286119
gnomAD v2: 3-172165730-C-T
gnomAD v4: 3-172447940-C-T
MyVariant Identifiers: chr3:g.172165730C>T (hg19) chr3:g.172447940C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172447940C>T , CM000665.2:g.172447940C>T GRCh38
NC_000003.11:g.172165730C>T , CM000665.1:g.172165730C>T GRCh37
NC_000003.10:g.173648424C>T NCBI36
NG_021159.1:g.5517G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.474G>A MANE Select ENSP00000241256.2:p.Gly158=
ENST00000241256.2:c.474G>A ENSP00000241256.2:p.Gly158=
ENST00000427970.1:c.474G>A ENSP00000395344.1:p.Gly158=
NM_004122.2:c.474G>A NP_004113.1:p.Gly158=
NM_198407.2:c.474G>A MANE Select NP_940799.1:p.Gly158=
Search 100 bp 5'
Search 100 bp 3'