Canonical Allele Identifier: CA355516423
Gene: GHSR HGNC NCBI

Linked Data

gnomAD v4: 3-172448263-C-T
COSMIC: COSM4763570 COSM4763571
MyVariant Identifiers: chr3:g.172166053C>T (hg19) chr3:g.172448263C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448263C>T , CM000665.2:g.172448263C>T GRCh38
NC_000003.11:g.172166053C>T , CM000665.1:g.172166053C>T GRCh37
NC_000003.10:g.173648747C>T NCBI36
NG_021159.1:g.5194G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000241256.3:c.151G>A MANE Select ENSP00000241256.2:p.Val51Met
ENST00000241256.2:c.151G>A ENSP00000241256.2:p.Val51Met
ENST00000427970.1:c.151G>A ENSP00000395344.1:p.Val51Met
NM_004122.2:c.151G>A NP_004113.1:p.Val51Met
NM_198407.2:c.151G>A MANE Select NP_940799.1:p.Val51Met
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