Canonical Allele Identifier: CA2706458
Gene: GHSR HGNC NCBI

Linked Data

dbSNP Id: rs747940186
ExAC: 3:172165720 G / T
gnomAD v2: 3-172165720-G-T
gnomAD v3: 3-172447930-G-T
gnomAD v4: 3-172447930-G-T
MyVariant Identifiers: chr3:g.172165720G>T (hg19) chr3:g.172447930G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172447930G>T , CM000665.2:g.172447930G>T GRCh38
NC_000003.11:g.172165720G>T , CM000665.1:g.172165720G>T GRCh37
NC_000003.10:g.173648414G>T NCBI36
NG_021159.1:g.5527C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.484C>A MANE Select ENSP00000241256.2:p.Leu162Met
ENST00000241256.2:c.484C>A ENSP00000241256.2:p.Leu162Met
ENST00000427970.1:c.484C>A ENSP00000395344.1:p.Leu162Met
NM_004122.2:c.484C>A NP_004113.1:p.Leu162Met
NM_198407.2:c.484C>A MANE Select NP_940799.1:p.Leu162Met
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