Canonical Allele Identifier: CA355514466

Gene: GHSR

Linked Data

• MyVariant Identifiers: chr3:g.172165761G>A (hg19) ; chr3:g.172447971G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.172447971G>A , CM000665.2:g.172447971G>A	GRCh38
NC_000003.11:g.172165761G>A , CM000665.1:g.172165761G>A	GRCh37
NC_000003.10:g.173648455G>A	NCBI36
NG_021159.1:g.5486C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241256.3:c.443C>T MANE Select	ENSP00000241256.2:p.Pro148Leu
ENST00000241256.2:c.443C>T	ENSP00000241256.2:p.Pro148Leu
ENST00000427970.1:c.443C>T	ENSP00000395344.1:p.Pro148Leu
NM_004122.2:c.443C>T	NP_004113.1:p.Pro148Leu
NM_198407.2:c.443C>T MANE Select	NP_940799.1:p.Pro148Leu