Canonical Allele Identifier: CA355514944
Gene: GHSR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448064T>A , CM000665.2:g.172448064T>A GRCh38
NC_000003.11:g.172165854T>A , CM000665.1:g.172165854T>A GRCh37
NC_000003.10:g.173648548T>A NCBI36
NG_021159.1:g.5393A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.350A>T MANE Select ENSP00000241256.2:p.Lys117Ile
ENST00000241256.2:c.350A>T ENSP00000241256.2:p.Lys117Ile
ENST00000427970.1:c.350A>T ENSP00000395344.1:p.Lys117Ile
NM_004122.2:c.350A>T NP_004113.1:p.Lys117Ile
NM_198407.2:c.350A>T MANE Select NP_940799.1:p.Lys117Ile