Canonical Allele Identifier: CA2706491
Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 1915761
ClinVar RCV Id: RCV002594064
dbSNP Id: rs766495914
ExAC: 3:172165879 A / G
gnomAD v2: 3-172165879-A-G
gnomAD v3: 3-172448089-A-G
gnomAD v4: 3-172448089-A-G
MyVariant Identifiers: chr3:g.172165879A>G (hg19) chr3:g.172448089A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448089A>G , CM000665.2:g.172448089A>G GRCh38
NC_000003.11:g.172165879A>G , CM000665.1:g.172165879A>G GRCh37
NC_000003.10:g.173648573A>G NCBI36
NG_021159.1:g.5368T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.325T>C MANE Select ENSP00000241256.2:p.Trp109Arg
ENST00000241256.2:c.325T>C ENSP00000241256.2:p.Trp109Arg
ENST00000427970.1:c.325T>C ENSP00000395344.1:p.Trp109Arg
NM_004122.2:c.325T>C NP_004113.1:p.Trp109Arg
NM_198407.2:c.325T>C MANE Select NP_940799.1:p.Trp109Arg
Search 100 bp 5'
Search 100 bp 3'