Canonical Allele Identifier: CA355515970
Gene: GHSR HGNC NCBI

Linked Data

dbSNP Id: rs1251028985
gnomAD v2: 3-172165966-G-A
gnomAD v4: 3-172448176-G-A
MyVariant Identifiers: chr3:g.172165966G>A (hg19) chr3:g.172448176G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448176G>A , CM000665.2:g.172448176G>A GRCh38
NC_000003.11:g.172165966G>A , CM000665.1:g.172165966G>A GRCh37
NC_000003.10:g.173648660G>A NCBI36
NG_021159.1:g.5281C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000241256.3:c.238C>T MANE Select ENSP00000241256.2:p.Leu80Phe
ENST00000241256.2:c.238C>T ENSP00000241256.2:p.Leu80Phe
ENST00000427970.1:c.238C>T ENSP00000395344.1:p.Leu80Phe
NM_004122.2:c.238C>T NP_004113.1:p.Leu80Phe
NM_198407.2:c.238C>T MANE Select NP_940799.1:p.Leu80Phe
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