Canonical Allele Identifier: CA2706457
Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 1397925
ClinVar RCV Id: RCV001912672
dbSNP Id: rs781009805
ExAC: 3:172165705 T / A
gnomAD v2: 3-172165705-T-A
gnomAD v3: 3-172447915-T-A
gnomAD v4: 3-172447915-T-A
MyVariant Identifiers: chr3:g.172165705T>A (hg19) chr3:g.172447915T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172447915T>A , CM000665.2:g.172447915T>A GRCh38
NC_000003.11:g.172165705T>A , CM000665.1:g.172165705T>A GRCh37
NC_000003.10:g.173648399T>A NCBI36
NG_021159.1:g.5542A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.499A>T MANE Select ENSP00000241256.2:p.Ile167Phe
ENST00000241256.2:c.499A>T ENSP00000241256.2:p.Ile167Phe
ENST00000427970.1:c.499A>T ENSP00000395344.1:p.Ile167Phe
NM_004122.2:c.499A>T NP_004113.1:p.Ile167Phe
NM_198407.2:c.499A>T MANE Select NP_940799.1:p.Ile167Phe
Search 100 bp 5'
Search 100 bp 3'