Canonical Allele Identifier: CA4520156
Gene: MGAM HGNC NCBI
TAS2R38 HGNC NCBI
OR9A4 HGNC NCBI
COSMIC:
COSM150406
dbSNP:
1726866
gnomAD v2:
7:141672705 G / A
gnomAD v3:
7:141972905 G / A
gnomAD v4:
chr7-141972905-G-A
Joint Max Group AF 0.6297714 (SAS)
Genomes Max Group AF 0.62265886 (SAS)
Exomes Max Group AF 0.62924024 (SAS)
MyVariant.info:
GRCh38 chr7:g.141972905G>A
GRCh37 chr7:g.141672705G>A
Revel Score:
ENST00000547270 (MANE Select) 0.040
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.141972905G>A , CM000669.2:g.141972905G>A GRCh38
NC_000007.13:g.141672705G>A , CM000669.1:g.141672705G>A GRCh37
NC_000007.12:g.141319174G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000465654.5:c.-3+26908G>A (MGAM) ENSP00000419372.1:n.-3+26908G>A
ENST00000547270.1:c.785C>T (TAS2R38) MANE Select ENSP00000448219.1:p.Ala262Val
XM_011515783.1:c.*25-13491G>A (OR9A4) XP_011514085.1:n.*25-13491G>A
NM_176817.5:c.785C>T (TAS2R38) MANE Select NP_789787.5:p.Ala262Val
Search 100 bp 5'
Search 100 bp 3'