Canonical Allele Identifier: CA355515112
Gene: GHSR HGNC NCBI

Linked Data

dbSNP Id: rs1404592507
gnomAD v2: 3-172165899-C-G
gnomAD v3: 3-172448109-C-G
gnomAD v4: 3-172448109-C-G
MyVariant Identifiers: chr3:g.172165899C>G (hg19) chr3:g.172448109C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448109C>G , CM000665.2:g.172448109C>G GRCh38
NC_000003.11:g.172165899C>G , CM000665.1:g.172165899C>G GRCh37
NC_000003.10:g.173648593C>G NCBI36
NG_021159.1:g.5348G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.305G>C MANE Select ENSP00000241256.2:p.Arg102Pro
ENST00000241256.2:c.305G>C ENSP00000241256.2:p.Arg102Pro
ENST00000427970.1:c.305G>C ENSP00000395344.1:p.Arg102Pro
NM_004122.2:c.305G>C NP_004113.1:p.Arg102Pro
NM_198407.2:c.305G>C MANE Select NP_940799.1:p.Arg102Pro
Search 100 bp 5'
Search 100 bp 3'