Canonical Allele Identifier: CA355516440

Gene: GHSR

Linked Data

• MyVariant Identifiers: chr3:g.172166055C>G (hg19) ; chr3:g.172448265C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.172448265C>G , CM000665.2:g.172448265C>G	GRCh38
NC_000003.11:g.172166055C>G , CM000665.1:g.172166055C>G	GRCh37
NC_000003.10:g.173648749C>G	NCBI36
NG_021159.1:g.5192G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241256.3:c.149G>C MANE Select	ENSP00000241256.2:p.Cys50Ser
ENST00000241256.2:c.149G>C	ENSP00000241256.2:p.Cys50Ser
ENST00000427970.1:c.149G>C	ENSP00000395344.1:p.Cys50Ser
NM_004122.2:c.149G>C	NP_004113.1:p.Cys50Ser
NM_198407.2:c.149G>C MANE Select	NP_940799.1:p.Cys50Ser