Canonical Allele Identifier: CA2706471
Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 1962623
ClinVar RCV Id: RCV002726271 RCV004067700
dbSNP Id: rs201085948
ExAC: 3:172165764 A / T
gnomAD v2: 3-172165764-A-T
gnomAD v3: 3-172447974-A-T
gnomAD v4: 3-172447974-A-T
MyVariant Identifiers: chr3:g.172165764A>T (hg19) chr3:g.172447974A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172447974A>T , CM000665.2:g.172447974A>T GRCh38
NC_000003.11:g.172165764A>T , CM000665.1:g.172165764A>T GRCh37
NC_000003.10:g.173648458A>T NCBI36
NG_021159.1:g.5483T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.440T>A MANE Select ENSP00000241256.2:p.Phe147Tyr
ENST00000241256.2:c.440T>A ENSP00000241256.2:p.Phe147Tyr
ENST00000427970.1:c.440T>A ENSP00000395344.1:p.Phe147Tyr
NM_004122.2:c.440T>A NP_004113.1:p.Phe147Tyr
NM_198407.2:c.440T>A MANE Select NP_940799.1:p.Phe147Tyr
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