Canonical Allele Identifier: CA372623699
Gene: FBXL6 HGNC NCBI
SLC52A2 HGNC NCBI

Linked Data

dbSNP Id: rs1554853421

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144358195G>A , CM000670.2:g.144358195G>A GRCh38
NC_000008.10:g.145581855G>A , CM000670.1:g.145581855G>A GRCh37
NC_000008.9:g.145552663G>A NCBI36
NG_032872.1:g.4639G>A
NG_032872.2:g.4639G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331890.6:c.253C>T (FBXL6) MANE Select ENSP00000330098.5:p.Leu85Phe
ENST00000532815.2:c.-111+593G>A (SLC52A2) ENSP00000501933.1:n.-111+593G>A
ENST00000675292.1:c.-110-989G>A (SLC52A2) ENSP00000502652.1:n.-110-989G>A
ENST00000675888.1:c.-110-989G>A (SLC52A2) ENSP00000502294.1:n.-110-989G>A
ENST00000331890.5:c.253C>T (FBXL6) ENSP00000330098.5:p.Leu85Phe
ENST00000455319.6:c.253C>T (FBXL6) ENSP00000403873.2:p.Leu85Phe
ENST00000524541.5:c.-110-989G>A (SLC52A2) ENSP00000434239.1:n.-110-989G>A
ENST00000530142.5:n.1079C>T (FBXL6)
ENST00000532815.1:n.399+593G>A (SLC52A2)
NM_012162.3:c.253C>T (FBXL6) NP_036294.2:p.Leu85Phe
NM_024555.5:c.253C>T (FBXL6) NP_078831.4:p.Leu85Phe
NM_012162.4:c.253C>T (FBXL6) MANE Select NP_036294.2:p.Leu85Phe
NM_024555.6:c.253C>T (FBXL6) NP_078831.4:p.Leu85Phe