Canonical Allele Identifier: CA4520161

Linked Data

dbSNP Id: rs575623439

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.141972940G>C , CM000669.2:g.141972940G>C GRCh38
NC_000007.13:g.141672740G>C , CM000669.1:g.141672740G>C GRCh37
NC_000007.12:g.141319209G>C NCBI36
NG_016141.1:g.5834C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000465654.5:c.-3+26943G>C (MGAM) ENSP00000419372.1:n.-3+26943G>C
ENST00000547270.1:c.750C>G (TAS2R38) MANE Select ENSP00000448219.1:p.Val250=
NM_176817.4:c.750C>G (TAS2R38) NP_789787.4:p.Val250=
XM_011515783.1:c.*25-13456G>C (OR9A4) XP_011514085.1:n.*25-13456G>C
NM_176817.5:c.750C>G (TAS2R38) MANE Select NP_789787.5:p.Val250=