Canonical Allele Identifier: CA2706482
Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 1491053
ClinVar RCV Id: RCV001986248
dbSNP Id: rs4988511
ExAC: 3:172165803 A / G
gnomAD v2: 3-172165803-A-G
gnomAD v3: 3-172448013-A-G
gnomAD v4: 3-172448013-A-G
MyVariant Identifiers: chr3:g.172165803A>G (hg19) chr3:g.172448013A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448013A>G , CM000665.2:g.172448013A>G GRCh38
NC_000003.11:g.172165803A>G , CM000665.1:g.172165803A>G GRCh37
NC_000003.10:g.173648497A>G NCBI36
NG_021159.1:g.5444T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.401T>C MANE Select ENSP00000241256.2:p.Ile134Thr
ENST00000241256.2:c.401T>C ENSP00000241256.2:p.Ile134Thr
ENST00000427970.1:c.401T>C ENSP00000395344.1:p.Ile134Thr
NM_004122.2:c.401T>C NP_004113.1:p.Ile134Thr
NM_198407.2:c.401T>C MANE Select NP_940799.1:p.Ile134Thr
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