Canonical Allele Identifier: CA355514298
Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 2802359
ClinVar RCV Id: RCV003668787
dbSNP Id: rs1737515275
gnomAD v4: 3-172447906-C-T
MyVariant Identifiers: chr3:g.172165696C>T (hg19) chr3:g.172447906C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172447906C>T , CM000665.2:g.172447906C>T GRCh38
NC_000003.11:g.172165696C>T , CM000665.1:g.172165696C>T GRCh37
NC_000003.10:g.173648390C>T NCBI36
NG_021159.1:g.5551G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.508G>A MANE Select ENSP00000241256.2:p.Val170Met
ENST00000241256.2:c.508G>A ENSP00000241256.2:p.Val170Met
ENST00000427970.1:c.508G>A ENSP00000395344.1:p.Val170Met
NM_004122.2:c.508G>A NP_004113.1:p.Val170Met
NM_198407.2:c.508G>A MANE Select NP_940799.1:p.Val170Met
Search 100 bp 5'
Search 100 bp 3'