Canonical Allele Identifier: CA2706474
Gene: GHSR HGNC NCBI

Linked Data

dbSNP Id: rs780941680
ExAC: 3:172165774 C / T
gnomAD v2: 3-172165774-C-T
gnomAD v4: 3-172447984-C-T
COSMIC: COSM252522 COSM252523
MyVariant Identifiers: chr3:g.172165774C>T (hg19) chr3:g.172447984C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172447984C>T , CM000665.2:g.172447984C>T GRCh38
NC_000003.11:g.172165774C>T , CM000665.1:g.172165774C>T GRCh37
NC_000003.10:g.173648468C>T NCBI36
NG_021159.1:g.5473G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.430G>A MANE Select ENSP00000241256.2:p.Ala144Thr
ENST00000241256.2:c.430G>A ENSP00000241256.2:p.Ala144Thr
ENST00000427970.1:c.430G>A ENSP00000395344.1:p.Ala144Thr
NM_004122.2:c.430G>A NP_004113.1:p.Ala144Thr
NM_198407.2:c.430G>A MANE Select NP_940799.1:p.Ala144Thr
Search 100 bp 5'
Search 100 bp 3'