Canonical Allele Identifier: CA436966452
Gene: GHSR HGNC NCBI

Linked Data

dbSNP Id: rs1360588234
gnomAD v2: 3-172165862-G-A
gnomAD v3: 3-172448072-G-A
gnomAD v4: 3-172448072-G-A
MyVariant Identifiers: chr3:g.172165862G>A (hg19) chr3:g.172448072G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448072G>A , CM000665.2:g.172448072G>A GRCh38
NC_000003.11:g.172165862G>A , CM000665.1:g.172165862G>A GRCh37
NC_000003.10:g.173648556G>A NCBI36
NG_021159.1:g.5385C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.342C>T MANE Select ENSP00000241256.2:p.Leu114=
ENST00000241256.2:c.342C>T ENSP00000241256.2:p.Leu114=
ENST00000427970.1:c.342C>T ENSP00000395344.1:p.Leu114=
NM_004122.2:c.342C>T NP_004113.1:p.Leu114=
NM_198407.2:c.342C>T MANE Select NP_940799.1:p.Leu114=
Search 100 bp 5'
Search 100 bp 3'