Canonical Allele Identifier: CA355515964
Gene: GHSR HGNC NCBI

Linked Data

dbSNP Id: rs1190017787
gnomAD v2: 3-172165965-A-T
gnomAD v4: 3-172448175-A-T
MyVariant Identifiers: chr3:g.172165965A>T (hg19) chr3:g.172448175A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448175A>T , CM000665.2:g.172448175A>T GRCh38
NC_000003.11:g.172165965A>T , CM000665.1:g.172165965A>T GRCh37
NC_000003.10:g.173648659A>T NCBI36
NG_021159.1:g.5282T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000241256.3:c.239T>A MANE Select ENSP00000241256.2:p.Leu80His
ENST00000241256.2:c.239T>A ENSP00000241256.2:p.Leu80His
ENST00000427970.1:c.239T>A ENSP00000395344.1:p.Leu80His
NM_004122.2:c.239T>A NP_004113.1:p.Leu80His
NM_198407.2:c.239T>A MANE Select NP_940799.1:p.Leu80His
Search 100 bp 5'
Search 100 bp 3'