Canonical Allele Identifier: CA87786254
Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 1578278
ClinVar RCV Id: RCV002090518
dbSNP Id: rs1056682592
gnomAD v2: 3-172166069-G-C
gnomAD v4: 3-172448279-G-C
MyVariant Identifiers: chr3:g.172166069G>C (hg19) chr3:g.172448279G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448279G>C , CM000665.2:g.172448279G>C GRCh38
NC_000003.11:g.172166069G>C , CM000665.1:g.172166069G>C GRCh37
NC_000003.10:g.173648763G>C NCBI36
NG_021159.1:g.5178C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.135C>G MANE Select ENSP00000241256.2:p.Gly45=
ENST00000241256.2:c.135C>G ENSP00000241256.2:p.Gly45=
ENST00000427970.1:c.135C>G ENSP00000395344.1:p.Gly45=
NM_004122.2:c.135C>G NP_004113.1:p.Gly45=
NM_198407.2:c.135C>G MANE Select NP_940799.1:p.Gly45=
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