Canonical Allele Identifier: CA355514942
Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 2719344
ClinVar RCV Id: RCV003553606
dbSNP Id: rs1737523563
gnomAD v4: 3-172448064-T-G
MyVariant Identifiers: chr3:g.172165854T>G (hg19) chr3:g.172448064T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448064T>G , CM000665.2:g.172448064T>G GRCh38
NC_000003.11:g.172165854T>G , CM000665.1:g.172165854T>G GRCh37
NC_000003.10:g.173648548T>G NCBI36
NG_021159.1:g.5393A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.350A>C MANE Select ENSP00000241256.2:p.Lys117Thr
ENST00000241256.2:c.350A>C ENSP00000241256.2:p.Lys117Thr
ENST00000427970.1:c.350A>C ENSP00000395344.1:p.Lys117Thr
NM_004122.2:c.350A>C NP_004113.1:p.Lys117Thr
NM_198407.2:c.350A>C MANE Select NP_940799.1:p.Lys117Thr
Search 100 bp 5'
Search 100 bp 3'