Canonical Allele Identifier: CA2706499
Gene: GHSR HGNC NCBI

Linked Data

dbSNP Id: rs745521758
ExAC: 3:172165947 G / A
gnomAD v2: 3-172165947-G-A
MyVariant Identifiers: chr3:g.172165947G>A (hg19) chr3:g.172448157G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448157G>A , CM000665.2:g.172448157G>A GRCh38
NC_000003.11:g.172165947G>A , CM000665.1:g.172165947G>A GRCh37
NC_000003.10:g.173648641G>A NCBI36
NG_021159.1:g.5300C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.257C>T MANE Select ENSP00000241256.2:p.Ala86Val
ENST00000241256.2:c.257C>T ENSP00000241256.2:p.Ala86Val
ENST00000427970.1:c.257C>T ENSP00000395344.1:p.Ala86Val
NM_004122.2:c.257C>T NP_004113.1:p.Ala86Val
NM_198407.2:c.257C>T MANE Select NP_940799.1:p.Ala86Val
Search 100 bp 5'
Search 100 bp 3'