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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA355515952
Gene: GHSR
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr3:g.172165962T>A (hg19)
chr3:g.172448172T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.172448172T>A , CM000665.2:g.172448172T>A
GRCh38
NC_000003.11:g.172165962T>A , CM000665.1:g.172165962T>A
GRCh37
NC_000003.10:g.173648656T>A
NCBI36
NG_021159.1:g.5285A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000241256.3:c.242A>T
MANE Select
ENSP00000241256.2:p.Tyr81Phe
ENST00000241256.2:c.242A>T
ENSP00000241256.2:p.Tyr81Phe
ENST00000427970.1:c.242A>T
ENSP00000395344.1:p.Tyr81Phe
NM_004122.2:c.242A>T
NP_004113.1:p.Tyr81Phe
NM_198407.2:c.242A>T
MANE Select
NP_940799.1:p.Tyr81Phe
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