Canonical Allele Identifier: CA87786216

Gene: GHSR

Linked Data

• dbSNP Id: rs924013806
• gnomAD v2: 3-172166050-C-A
• gnomAD v3: 3-172448260-C-A
• gnomAD v4: 3-172448260-C-A
• MyVariant Identifiers: chr3:g.172166050C>A (hg19) ; chr3:g.172448260C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.172448260C>A , CM000665.2:g.172448260C>A	GRCh38
NC_000003.11:g.172166050C>A , CM000665.1:g.172166050C>A	GRCh37
NC_000003.10:g.173648744C>A	NCBI36
NG_021159.1:g.5197G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241256.3:c.154G>T MANE Select	ENSP00000241256.2:p.Ala52Ser
ENST00000241256.2:c.154G>T	ENSP00000241256.2:p.Ala52Ser
ENST00000427970.1:c.154G>T	ENSP00000395344.1:p.Ala52Ser
NM_004122.2:c.154G>T	NP_004113.1:p.Ala52Ser
NM_198407.2:c.154G>T MANE Select	NP_940799.1:p.Ala52Ser