Canonical Allele Identifier: CA436965463

Gene: GHSR

Linked Data

• gnomAD v4: 3-172448168-C-T
• MyVariant Identifiers: chr3:g.172165958C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.172448168C>T , CM000665.2:g.172448168C>T	GRCh38
NC_000003.11:g.172165958C>T , CM000665.1:g.172165958C>T	GRCh37
NC_000003.10:g.173648652C>T	NCBI36
NG_021159.1:g.5289G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000241256.3:c.246G>A MANE Select	ENSP00000241256.2:p.Leu82=
ENST00000241256.2:c.246G>A	ENSP00000241256.2:p.Leu82=
ENST00000427970.1:c.246G>A	ENSP00000395344.1:p.Leu82=
NM_004122.2:c.246G>A	NP_004113.1:p.Leu82=
NM_198407.2:c.246G>A MANE Select	NP_940799.1:p.Leu82=