Canonical Allele Identifier: CA355514507
Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 3099745
ClinVar RCV Id: RCV004390570
gnomAD v4: 3-172447983-G-A
MyVariant Identifiers: chr3:g.172165773G>A (hg19) chr3:g.172447983G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172447983G>A , CM000665.2:g.172447983G>A GRCh38
NC_000003.11:g.172165773G>A , CM000665.1:g.172165773G>A GRCh37
NC_000003.10:g.173648467G>A NCBI36
NG_021159.1:g.5474C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.431C>T MANE Select ENSP00000241256.2:p.Ala144Val
ENST00000241256.2:c.431C>T ENSP00000241256.2:p.Ala144Val
ENST00000427970.1:c.431C>T ENSP00000395344.1:p.Ala144Val
NM_004122.2:c.431C>T NP_004113.1:p.Ala144Val
NM_198407.2:c.431C>T MANE Select NP_940799.1:p.Ala144Val
Search 100 bp 5'
Search 100 bp 3'