Canonical Allele Identifier: CA369566113

Linked Data

ClinVar Variation Id: 2317328
ClinVar RCV Id: RCV002898005

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.141973557C>T , CM000669.2:g.141973557C>T GRCh38
NC_000007.13:g.141673357C>T , CM000669.1:g.141673357C>T GRCh37
NC_000007.12:g.141319826C>T NCBI36
NG_016141.1:g.5217G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000465654.5:c.-3+27560C>T (MGAM) ENSP00000419372.1:n.-3+27560C>T
ENST00000547270.1:c.133G>A (TAS2R38) MANE Select ENSP00000448219.1:p.Val45Met
NM_176817.4:c.133G>A (TAS2R38) NP_789787.4:p.Val45Met
XM_011515783.1:c.*25-12839C>T (OR9A4) XP_011514085.1:n.*25-12839C>T
NM_176817.5:c.133G>A (TAS2R38) MANE Select NP_789787.5:p.Val45Met