Canonical Allele Identifier: CA436965632
Gene: GHSR HGNC NCBI

Linked Data

dbSNP Id: rs1186087324
gnomAD v2: 3-172166072-C-T
gnomAD v3: 3-172448282-C-T
gnomAD v4: 3-172448282-C-T
COSMIC: COSM1420645 COSM1420646
MyVariant Identifiers: chr3:g.172166072C>T (hg19) chr3:g.172448282C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448282C>T , CM000665.2:g.172448282C>T GRCh38
NC_000003.11:g.172166072C>T , CM000665.1:g.172166072C>T GRCh37
NC_000003.10:g.173648766C>T NCBI36
NG_021159.1:g.5175G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.132G>A MANE Select ENSP00000241256.2:p.Ala44=
ENST00000241256.2:c.132G>A ENSP00000241256.2:p.Ala44=
ENST00000427970.1:c.132G>A ENSP00000395344.1:p.Ala44=
NM_004122.2:c.132G>A NP_004113.1:p.Ala44=
NM_198407.2:c.132G>A MANE Select NP_940799.1:p.Ala44=
Search 100 bp 5'
Search 100 bp 3'