Canonical Allele Identifier: CA463549564
Gene: FBXL6 HGNC NCBI
SLC52A2 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.144358303G>A
GRCh37 chr8:g.145581963G>A
gnomAD v2:
8:145581963 G / A
gnomAD v3:
8:144358303 G / A
gnomAD v4:
chr8-144358303-G-A
Joint Max Group AF 0.00003839 (NFE)
Genomes Max Group AF 0.00000489 (NFE)
Exomes Max Group AF 0.0000398 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144358303G>A , CM000670.2:g.144358303G>A GRCh38
NC_000008.10:g.145581963G>A , CM000670.1:g.145581963G>A GRCh37
NC_000008.9:g.145552771G>A NCBI36
NG_032872.1:g.4747G>A
NG_032872.2:g.4747G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331890.6:c.145C>T (FBXL6) MANE Select ENSP00000330098.5:p.Leu49=
ENST00000532815.2:c.-111+701G>A (SLC52A2) ENSP00000501933.1:n.-111+701G>A
ENST00000675292.1:c.-110-881G>A (SLC52A2) ENSP00000502652.1:n.-110-881G>A
ENST00000675888.1:c.-110-881G>A (SLC52A2) ENSP00000502294.1:n.-110-881G>A
ENST00000331890.5:c.145C>T (FBXL6) ENSP00000330098.5:p.Leu49=
ENST00000455319.6:c.145C>T (FBXL6) ENSP00000403873.2:p.Leu49=
ENST00000524541.5:c.-110-881G>A (SLC52A2) ENSP00000434239.1:n.-110-881G>A
ENST00000530142.5:n.971C>T (FBXL6)
ENST00000532815.1:n.399+701G>A (SLC52A2)
NM_012162.3:c.145C>T (FBXL6) NP_036294.2:p.Leu49=
NM_024555.5:c.145C>T (FBXL6) NP_078831.4:p.Leu49=
NM_012162.4:c.145C>T (FBXL6) MANE Select NP_036294.2:p.Leu49=
NM_024555.6:c.145C>T (FBXL6) NP_078831.4:p.Leu49=
Search 100 bp 5'
Search 100 bp 3'