Canonical Allele Identifier: CA4520178
Gene: MGAM HGNC NCBI
TAS2R38 HGNC NCBI
OR9A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2517014
ClinVar RCV Id: RCV004289746
dbSNP Id: rs142321204
ExAC: 7:141672841 T / G
gnomAD v2: 7-141672841-T-G
gnomAD v3: 7-141973041-T-G
gnomAD v4: 7-141973041-T-G
MyVariant Identifiers: chr7:g.141672841T>G (hg19) chr7:g.141973041T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.141973041T>G , CM000669.2:g.141973041T>G GRCh38
NC_000007.13:g.141672841T>G , CM000669.1:g.141672841T>G GRCh37
NC_000007.12:g.141319310T>G NCBI36
NG_016141.1:g.5733A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000465654.5:c.-3+27044T>G (MGAM) ENSP00000419372.1:n.-3+27044T>G
ENST00000547270.1:c.649A>C (TAS2R38) MANE Select ENSP00000448219.1:p.Thr217Pro
NM_176817.4:c.649A>C (TAS2R38) NP_789787.4:p.Thr217Pro
XM_011515783.1:c.*25-13355T>G (OR9A4) XP_011514085.1:n.*25-13355T>G
NM_176817.5:c.649A>C (TAS2R38) MANE Select NP_789787.5:p.Thr217Pro
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