Canonical Allele Identifier: CA355514847
Gene: GHSR HGNC NCBI

Linked Data

dbSNP Id: rs1309578193
gnomAD v2: 3-172165832-C-G
gnomAD v3: 3-172448042-C-G
gnomAD v4: 3-172448042-C-G
MyVariant Identifiers: chr3:g.172165832C>G (hg19) chr3:g.172448042C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448042C>G , CM000665.2:g.172448042C>G GRCh38
NC_000003.11:g.172165832C>G , CM000665.1:g.172165832C>G GRCh37
NC_000003.10:g.173648526C>G NCBI36
NG_021159.1:g.5415G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.372G>C MANE Select ENSP00000241256.2:p.Glu124Asp
ENST00000241256.2:c.372G>C ENSP00000241256.2:p.Glu124Asp
ENST00000427970.1:c.372G>C ENSP00000395344.1:p.Glu124Asp
NM_004122.2:c.372G>C NP_004113.1:p.Glu124Asp
NM_198407.2:c.372G>C MANE Select NP_940799.1:p.Glu124Asp
Search 100 bp 5'
Search 100 bp 3'