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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:
CA369565319
Gene: MGAM
HGNC
NCBI
TAS2R38
HGNC
NCBI
OR9A4
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr7:g.141673158G>T (hg19)
chr7:g.141973358G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.141973358G>T , CM000669.2:g.141973358G>T
GRCh38
NC_000007.13:g.141673158G>T , CM000669.1:g.141673158G>T
GRCh37
NC_000007.12:g.141319627G>T
NCBI36
NG_016141.1:g.5416C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000465654.5:c.-3+27361G>T
(MGAM)
ENSP00000419372.1:n.-3+27361G>T
ENST00000547270.1:c.332C>A
(TAS2R38)
MANE Select
ENSP00000448219.1:p.Ala111Asp
NM_176817.4:c.332C>A
(TAS2R38)
NP_789787.4:p.Ala111Asp
XM_011515783.1:c.*25-13038G>T
(OR9A4)
XP_011514085.1:n.*25-13038G>T
NM_176817.5:c.332C>A
(TAS2R38)
MANE Select
NP_789787.5:p.Ala111Asp
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