Canonical Allele Identifier: CA2706459
Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 263110
ClinVar RCV Id: RCV000249477 RCV000347022 RCV001723864
dbSNP Id: rs572169
ExAC: 3:172165727 C / T
gnomAD v2: 3-172165727-C-T
gnomAD v3: 3-172447937-C-T
gnomAD v4: 3-172447937-C-T
MyVariant Identifiers: chr3:g.172165727C>T (hg19) chr3:g.172447937C>T (hg38)
Allelic Epigenome: Alellic Epigenome (raw data)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172447937C>T , CM000665.2:g.172447937C>T GRCh38
NC_000003.11:g.172165727C>T , CM000665.1:g.172165727C>T GRCh37
NC_000003.10:g.173648421C>T NCBI36
NG_021159.1:g.5520G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.477G>A MANE Select ENSP00000241256.2:p.Arg159=
ENST00000241256.2:c.477G>A ENSP00000241256.2:p.Arg159=
ENST00000427970.1:c.477G>A ENSP00000395344.1:p.Arg159=
NM_004122.2:c.477G>A NP_004113.1:p.Arg159=
NM_198407.2:c.477G>A MANE Select NP_940799.1:p.Arg159=
Search 100 bp 5'
Search 100 bp 3'