Canonical Allele Identifier: CA87785335
Gene: GHSR HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.172447869A>G
GRCh37 chr3:g.172165659A>G
Revel Score:
ENST00000241256 (MANE Select) 0.490
ENST00000427970 0.490
gnomAD v4:
chr3-172447869-A-G
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar Allele:
1330634
ClinVar RCV:
RCV001824197
RCV002246538
ClinVar Variation:
1339488
dbSNP:
1043529281
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172447869A>G , CM000665.2:g.172447869A>G GRCh38
NC_000003.11:g.172165659A>G , CM000665.1:g.172165659A>G GRCh37
NC_000003.10:g.173648353A>G NCBI36
NG_021159.1:g.5588T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.545T>C MANE Select ENSP00000241256.2:p.Val182Ala
ENST00000241256.2:c.545T>C ENSP00000241256.2:p.Val182Ala
ENST00000427970.1:c.545T>C ENSP00000395344.1:p.Val182Ala
NM_004122.2:c.545T>C NP_004113.1:p.Val182Ala
NM_198407.2:c.545T>C MANE Select NP_940799.1:p.Val182Ala
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