Canonical Allele Identifier: CA2706487
Gene: GHSR HGNC NCBI

Linked Data

dbSNP Id: rs201241515
ExAC: 3:172165849 A / G
gnomAD v2: 3-172165849-A-G
gnomAD v3: 3-172448059-A-G
gnomAD v4: 3-172448059-A-G
MyVariant Identifiers: chr3:g.172165849A>G (hg19) chr3:g.172448059A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448059A>G , CM000665.2:g.172448059A>G GRCh38
NC_000003.11:g.172165849A>G , CM000665.1:g.172165849A>G GRCh37
NC_000003.10:g.173648543A>G NCBI36
NG_021159.1:g.5398T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.355T>C MANE Select ENSP00000241256.2:p.Phe119Leu
ENST00000241256.2:c.355T>C ENSP00000241256.2:p.Phe119Leu
ENST00000427970.1:c.355T>C ENSP00000395344.1:p.Phe119Leu
NM_004122.2:c.355T>C NP_004113.1:p.Phe119Leu
NM_198407.2:c.355T>C MANE Select NP_940799.1:p.Phe119Leu
Search 100 bp 5'
Search 100 bp 3'