Canonical Allele Identifier: CA115855
Gene: MGAM HGNC NCBI
TAS2R38 HGNC NCBI
OR9A4 HGNC NCBI
COSMIC:
COSM4004331 (not active)
MyVariant.info:
GRCh38 chr7:g.141973545C>G
GRCh37 chr7:g.141673345C>G
Revel Score:
ENST00000547270 (MANE Select) 0.088
gnomAD v2:
7:141673345 C / G
gnomAD v3:
7:141973545 C / G
gnomAD v4:
chr7-141973545-C-G
Joint Max Group AF 0.64235243 (AMR)
Genomes Max Group AF 0.64868414 (EAS)
Exomes Max Group AF 0.65951181 (AMR)
ClinVar Allele:
17943
ClinVar RCV:
RCV000003038
ClinVar Variation:
2904
dbSNP:
713598
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.141973545C>G , CM000669.2:g.141973545C>G GRCh38
NC_000007.13:g.141673345C>G , CM000669.1:g.141673345C>G GRCh37
NC_000007.12:g.141319814C>G NCBI36
NG_016141.1:g.5229G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000465654.5:c.-3+27548C>G (MGAM) ENSP00000419372.1:n.-3+27548C>G
ENST00000547270.1:c.145G>C (TAS2R38) MANE Select ENSP00000448219.1:p.Ala49Pro
NM_176817.4:c.145G>C (TAS2R38) NP_789787.4:p.Ala49Pro
XM_011515783.1:c.*25-12851C>G (OR9A4) XP_011514085.1:n.*25-12851C>G
NM_176817.5:c.145G>C (TAS2R38) MANE Select NP_789787.5:p.Ala49Pro
Search 100 bp 5'
Search 100 bp 3'