Canonical Allele Identifier: CA87785786
Gene: GHSR HGNC NCBI

Linked Data

dbSNP Id: rs200796016
gnomAD v2: 3-172165840-C-T
COSMIC: COSM3846749 COSM3846750
MyVariant Identifiers: chr3:g.172165840C>T (hg19) chr3:g.172448050C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448050C>T , CM000665.2:g.172448050C>T GRCh38
NC_000003.11:g.172165840C>T , CM000665.1:g.172165840C>T GRCh37
NC_000003.10:g.173648534C>T NCBI36
NG_021159.1:g.5407G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.364G>A MANE Select ENSP00000241256.2:p.Val122Ile
ENST00000241256.2:c.364G>A ENSP00000241256.2:p.Val122Ile
ENST00000427970.1:c.364G>A ENSP00000395344.1:p.Val122Ile
NM_004122.2:c.364G>A NP_004113.1:p.Val122Ile
NM_198407.2:c.364G>A MANE Select NP_940799.1:p.Val122Ile
Search 100 bp 5'
Search 100 bp 3'