Canonical Allele Identifier: CA355514544
Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 1187869
ClinVar RCV Id: RCV001547453
dbSNP Id: rs199698243
gnomAD v4: 3-172447992-C-A
MyVariant Identifiers: chr3:g.172165782C>A (hg19) chr3:g.172447992C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172447992C>A , CM000665.2:g.172447992C>A GRCh38
NC_000003.11:g.172165782C>A , CM000665.1:g.172165782C>A GRCh37
NC_000003.10:g.173648476C>A NCBI36
NG_021159.1:g.5465G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.422G>T MANE Select ENSP00000241256.2:p.Arg141Leu
ENST00000241256.2:c.422G>T ENSP00000241256.2:p.Arg141Leu
ENST00000427970.1:c.422G>T ENSP00000395344.1:p.Arg141Leu
NM_004122.2:c.422G>T NP_004113.1:p.Arg141Leu
NM_198407.2:c.422G>T MANE Select NP_940799.1:p.Arg141Leu
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