Canonical Allele Identifier: CA2706480

Gene: GHSR

Linked Data

• dbSNP Id: rs773832932
• ExAC: 3:172165797 G / A
• gnomAD v2: 3-172165797-G-A
• gnomAD v3: 3-172448007-G-A
• gnomAD v4: 3-172448007-G-A
• MyVariant Identifiers: chr3:g.172165797G>A (hg19) ; chr3:g.172448007G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.172448007G>A , CM000665.2:g.172448007G>A	GRCh38
NC_000003.11:g.172165797G>A , CM000665.1:g.172165797G>A	GRCh37
NC_000003.10:g.173648491G>A	NCBI36
NG_021159.1:g.5450C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241256.3:c.407C>T MANE Select	ENSP00000241256.2:p.Ala136Val
ENST00000241256.2:c.407C>T	ENSP00000241256.2:p.Ala136Val
ENST00000427970.1:c.407C>T	ENSP00000395344.1:p.Ala136Val
NM_004122.2:c.407C>T	NP_004113.1:p.Ala136Val
NM_198407.2:c.407C>T MANE Select	NP_940799.1:p.Ala136Val