Canonical Allele Identifier: CA369563511

Linked Data

ClinVar Variation Id: 2281700
ClinVar RCV Id: RCV002830844
dbSNP Id: rs1554444315

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.141972730C>A , CM000669.2:g.141972730C>A GRCh38
NC_000007.13:g.141672530C>A , CM000669.1:g.141672530C>A GRCh37
NC_000007.12:g.141318999C>A NCBI36
NG_016141.1:g.6044G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000465654.5:c.-3+26733C>A (MGAM) ENSP00000419372.1:n.-3+26733C>A
ENST00000547270.1:c.960G>T (TAS2R38) MANE Select ENSP00000448219.1:p.Lys320Asn
NM_176817.4:c.960G>T (TAS2R38) NP_789787.4:p.Lys320Asn
XM_011515783.1:c.*25-13666C>A (OR9A4) XP_011514085.1:n.*25-13666C>A
NM_176817.5:c.960G>T (TAS2R38) MANE Select NP_789787.5:p.Lys320Asn