Canonical Allele Identifier: CA355515972
Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 2735237
ClinVar RCV Id: RCV003557435
MyVariant Identifiers: chr3:g.172165966G>C (hg19) chr3:g.172448176G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448176G>C , CM000665.2:g.172448176G>C GRCh38
NC_000003.11:g.172165966G>C , CM000665.1:g.172165966G>C GRCh37
NC_000003.10:g.173648660G>C NCBI36
NG_021159.1:g.5281C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.238C>G MANE Select ENSP00000241256.2:p.Leu80Val
ENST00000241256.2:c.238C>G ENSP00000241256.2:p.Leu80Val
ENST00000427970.1:c.238C>G ENSP00000395344.1:p.Leu80Val
NM_004122.2:c.238C>G NP_004113.1:p.Leu80Val
NM_198407.2:c.238C>G MANE Select NP_940799.1:p.Leu80Val
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