Canonical Allele Identifier: CA355516323

Gene: GHSR

Linked Data

• MyVariant Identifiers: chr3:g.172166032T>G (hg19) ; chr3:g.172448242T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.172448242T>G , CM000665.2:g.172448242T>G	GRCh38
NC_000003.11:g.172166032T>G , CM000665.1:g.172166032T>G	GRCh37
NC_000003.10:g.173648726T>G	NCBI36
NG_021159.1:g.5215A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241256.3:c.172A>C MANE Select	ENSP00000241256.2:p.Ile58Leu
ENST00000241256.2:c.172A>C	ENSP00000241256.2:p.Ile58Leu
ENST00000427970.1:c.172A>C	ENSP00000395344.1:p.Ile58Leu
NM_004122.2:c.172A>C	NP_004113.1:p.Ile58Leu
NM_198407.2:c.172A>C MANE Select	NP_940799.1:p.Ile58Leu