Canonical Allele Identifier: CA2706524
Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 698146
ClinVar RCV Id: RCV000865398 RCV001147223
dbSNP Id: rs2232166
ExAC: 3:172166060 G / A
gnomAD v2: 3-172166060-G-A
gnomAD v3: 3-172448270-G-A
gnomAD v4: 3-172448270-G-A
COSMIC: COSM4157442 COSM4157443
MyVariant Identifiers: chr3:g.172166060G>A (hg19) chr3:g.172448270G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448270G>A , CM000665.2:g.172448270G>A GRCh38
NC_000003.11:g.172166060G>A , CM000665.1:g.172166060G>A GRCh37
NC_000003.10:g.173648754G>A NCBI36
NG_021159.1:g.5187C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.144C>T MANE Select ENSP00000241256.2:p.Ala48=
ENST00000241256.2:c.144C>T ENSP00000241256.2:p.Ala48=
ENST00000427970.1:c.144C>T ENSP00000395344.1:p.Ala48=
NM_004122.2:c.144C>T NP_004113.1:p.Ala48=
NM_198407.2:c.144C>T MANE Select NP_940799.1:p.Ala48=
Search 100 bp 5'
Search 100 bp 3'