Canonical Allele Identifier: CA4520200
Gene: MGAM HGNC NCBI
TAS2R38 HGNC NCBI
OR9A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3174081
ClinVar RCV Id: RCV004471445
dbSNP Id: rs782034667
ExAC: 7:141673036 A / C
gnomAD v2: 7-141673036-A-C
gnomAD v3: 7-141973236-A-C
gnomAD v4: 7-141973236-A-C
MyVariant Identifiers: chr7:g.141673036A>C (hg19) chr7:g.141973236A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.141973236A>C , CM000669.2:g.141973236A>C GRCh38
NC_000007.13:g.141673036A>C , CM000669.1:g.141673036A>C GRCh37
NC_000007.12:g.141319505A>C NCBI36
NG_016141.1:g.5538T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000465654.5:c.-3+27239A>C (MGAM) ENSP00000419372.1:n.-3+27239A>C
ENST00000547270.1:c.454T>G (TAS2R38) MANE Select ENSP00000448219.1:p.Cys152Gly
NM_176817.4:c.454T>G (TAS2R38) NP_789787.4:p.Cys152Gly
XM_011515783.1:c.*25-13160A>C (OR9A4) XP_011514085.1:n.*25-13160A>C
NM_176817.5:c.454T>G (TAS2R38) MANE Select NP_789787.5:p.Cys152Gly
Search 100 bp 5'
Search 100 bp 3'