Canonical Allele Identifier: CA355514458

Gene: GHSR

Linked Data

• MyVariant Identifiers: chr3:g.172165758A>C (hg19) ; chr3:g.172447968A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.172447968A>C , CM000665.2:g.172447968A>C	GRCh38
NC_000003.11:g.172165758A>C , CM000665.1:g.172165758A>C	GRCh37
NC_000003.10:g.173648452A>C	NCBI36
NG_021159.1:g.5489T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241256.3:c.446T>G MANE Select	ENSP00000241256.2:p.Leu149Arg
ENST00000241256.2:c.446T>G	ENSP00000241256.2:p.Leu149Arg
ENST00000427970.1:c.446T>G	ENSP00000395344.1:p.Leu149Arg
NM_004122.2:c.446T>G	NP_004113.1:p.Leu149Arg
NM_198407.2:c.446T>G MANE Select	NP_940799.1:p.Leu149Arg