Canonical Allele Identifier: CA436965467
Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 2787235
ClinVar RCV Id: RCV003660640
gnomAD v4: 3-172448171-G-A
MyVariant Identifiers: chr3:g.172165961G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448171G>A , CM000665.2:g.172448171G>A GRCh38
NC_000003.11:g.172165961G>A , CM000665.1:g.172165961G>A GRCh37
NC_000003.10:g.173648655G>A NCBI36
NG_021159.1:g.5286C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000241256.3:c.243C>T MANE Select ENSP00000241256.2:p.Tyr81=
ENST00000241256.2:c.243C>T ENSP00000241256.2:p.Tyr81=
ENST00000427970.1:c.243C>T ENSP00000395344.1:p.Tyr81=
NM_004122.2:c.243C>T NP_004113.1:p.Tyr81=
NM_198407.2:c.243C>T MANE Select NP_940799.1:p.Tyr81=
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