Canonical Allele Identifier: CA2706523
Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 2191613
ClinVar RCV Id: RCV002620688 RCV002632908
dbSNP Id: rs144640317
ExAC: 3:172166058 G / A
gnomAD v2: 3-172166058-G-A
gnomAD v3: 3-172448268-G-A
gnomAD v4: 3-172448268-G-A
MyVariant Identifiers: chr3:g.172166058G>A (hg19) chr3:g.172448268G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448268G>A , CM000665.2:g.172448268G>A GRCh38
NC_000003.11:g.172166058G>A , CM000665.1:g.172166058G>A GRCh37
NC_000003.10:g.173648752G>A NCBI36
NG_021159.1:g.5189C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.146C>T MANE Select ENSP00000241256.2:p.Thr49Ile
ENST00000241256.2:c.146C>T ENSP00000241256.2:p.Thr49Ile
ENST00000427970.1:c.146C>T ENSP00000395344.1:p.Thr49Ile
NM_004122.2:c.146C>T NP_004113.1:p.Thr49Ile
NM_198407.2:c.146C>T MANE Select NP_940799.1:p.Thr49Ile
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