Canonical Allele Identifier: CA372623712

Gene: FBXL6 SLC52A2

Linked Data

• gnomAD v4: 8-144358200-G-A
• MyVariant Identifiers: chr8:g.145581860G>A (hg19) ; chr8:g.144358200G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144358200G>A , CM000670.2:g.144358200G>A	GRCh38
NC_000008.10:g.145581860G>A , CM000670.1:g.145581860G>A	GRCh37
NC_000008.9:g.145552668G>A	NCBI36
NG_032872.1:g.4644G>A
NG_032872.2:g.4644G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331890.6:c.248C>T (FBXL6) MANE Select	ENSP00000330098.5:p.Ala83Val
ENST00000532815.2:c.-111+598G>A (SLC52A2)	ENSP00000501933.1:n.-111+598G>A
ENST00000675292.1:c.-110-984G>A (SLC52A2)	ENSP00000502652.1:n.-110-984G>A
ENST00000675888.1:c.-110-984G>A (SLC52A2)	ENSP00000502294.1:n.-110-984G>A
ENST00000331890.5:c.248C>T (FBXL6)	ENSP00000330098.5:p.Ala83Val
ENST00000455319.6:c.248C>T (FBXL6)	ENSP00000403873.2:p.Ala83Val
ENST00000524541.5:c.-110-984G>A (SLC52A2)	ENSP00000434239.1:n.-110-984G>A
ENST00000530142.5:n.1074C>T (FBXL6)
ENST00000532815.1:n.399+598G>A (SLC52A2)
NM_012162.3:c.248C>T (FBXL6)	NP_036294.2:p.Ala83Val
NM_024555.5:c.248C>T (FBXL6)	NP_078831.4:p.Ala83Val
NM_012162.4:c.248C>T (FBXL6) MANE Select	NP_036294.2:p.Ala83Val
NM_024555.6:c.248C>T (FBXL6)	NP_078831.4:p.Ala83Val