Canonical Allele Identifier: CA168093855

Linked Data

ClinVar Variation Id: 3174084
ClinVar RCV Id: RCV004471448
dbSNP Id: rs1000902355

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.141972963T>C , CM000669.2:g.141972963T>C GRCh38
NC_000007.13:g.141672763T>C , CM000669.1:g.141672763T>C GRCh37
NC_000007.12:g.141319232T>C NCBI36
NG_016141.1:g.5811A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000465654.5:c.-3+26966T>C (MGAM) ENSP00000419372.1:n.-3+26966T>C
ENST00000547270.1:c.727A>G (TAS2R38) MANE Select ENSP00000448219.1:p.Ile243Val
NM_176817.4:c.727A>G (TAS2R38) NP_789787.4:p.Ile243Val
XM_011515783.1:c.*25-13433T>C (OR9A4) XP_011514085.1:n.*25-13433T>C
NM_176817.5:c.727A>G (TAS2R38) MANE Select NP_789787.5:p.Ile243Val