Canonical Allele Identifier: CA548333839

Gene: GHSR

Linked Data

• dbSNP Id: rs1308977619
• gnomAD v2: 3-172166086-CG-C
• gnomAD v4: 3-172448296-CG-C
• MyVariant Identifiers: chr3:g.172166087del (hg19) ; chr3:g.172448297del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.172448300del , CM000665.2:g.172448300del	GRCh38
NC_000003.11:g.172166090del , CM000665.1:g.172166090del	GRCh37
NC_000003.10:g.173648784del	NCBI36
NG_021159.1:g.5160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241256.3:c.117del MANE Select	ENSP00000241256.2:p.Ala40ArgfsTer?
ENST00000241256.2:c.117del	ENSP00000241256.2:p.Ala40ArgfsTer?
ENST00000427970.1:c.117del	ENSP00000395344.1:p.Ala40ArgfsTer?
NM_004122.2:c.117del	NP_004113.1:p.Ala40ArgfsTer?
NM_198407.2:c.117del MANE Select	NP_940799.1:p.Ala40ArgfsTer?