Canonical Allele Identifier: CA2706483
Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 1909205
ClinVar RCV Id: RCV002600145
dbSNP Id: rs543613388
ExAC: 3:172165823 G / A
gnomAD v2: 3-172165823-G-A
gnomAD v3: 3-172448033-G-A
gnomAD v4: 3-172448033-G-A
MyVariant Identifiers: chr3:g.172165823G>A (hg19) chr3:g.172448033G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448033G>A , CM000665.2:g.172448033G>A GRCh38
NC_000003.11:g.172165823G>A , CM000665.1:g.172165823G>A GRCh37
NC_000003.10:g.173648517G>A NCBI36
NG_021159.1:g.5424C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.381C>T MANE Select ENSP00000241256.2:p.Thr127=
ENST00000241256.2:c.381C>T ENSP00000241256.2:p.Thr127=
ENST00000427970.1:c.381C>T ENSP00000395344.1:p.Thr127=
NM_004122.2:c.381C>T NP_004113.1:p.Thr127=
NM_198407.2:c.381C>T MANE Select NP_940799.1:p.Thr127=
Search 100 bp 5'
Search 100 bp 3'