Canonical Allele Identifier: CA355515832

Gene: GHSR

Linked Data

• dbSNP Id: rs1560129737
• gnomAD v2: 3-172165941-G-T
• gnomAD v3: 3-172448151-G-T
• gnomAD v4: 3-172448151-G-T
• MyVariant Identifiers: chr3:g.172165941G>T (hg19) ; chr3:g.172165941_172165944delinsTAGA (hg19) ; chr3:g.172448151G>T (hg38) ; chr3:g.172448151_172448154delinsTAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.172448151G>T , CM000665.2:g.172448151G>T	GRCh38
NC_000003.11:g.172165941G>T , CM000665.1:g.172165941G>T	GRCh37
NC_000003.10:g.173648635G>T	NCBI36
NG_021159.1:g.5306C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241256.3:c.263C>A MANE Select	ENSP00000241256.2:p.Ser88Tyr
ENST00000241256.2:c.263C>A	ENSP00000241256.2:p.Ser88Tyr
ENST00000427970.1:c.263C>A	ENSP00000395344.1:p.Ser88Tyr
NM_004122.2:c.263C>A	NP_004113.1:p.Ser88Tyr
NM_198407.2:c.263C>A MANE Select	NP_940799.1:p.Ser88Tyr