Canonical Allele Identifier: CA2706544
Gene: GHSR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 344202
ClinVar RCV Id: RCV000404056
dbSNP Id: rs2232165

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448354G>A , CM000665.2:g.172448354G>A GRCh38
NC_000003.11:g.172166144G>A , CM000665.1:g.172166144G>A GRCh37
NC_000003.10:g.173648838G>A NCBI36
NG_021159.1:g.5103C>T

Transcript Alleles

HGVS Amino-acid change
NM_004122.2:c.60C>T VV NP_004113.1:p.Asp20=
NM_198407.2:c.60C>T VV NP_940799.1:p.Asp20=
ENST00000241256.2:c.60C>T ENSP00000241256.2:p.Asp20=
ENST00000427970.1:c.60C>T ENSP00000395344.1:p.Asp20=