Canonical Allele Identifier: CA4938008
Gene: FBXL6 HGNC NCBI
SLC52A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 498912
ClinVar RCV Id: RCV000596529
dbSNP Id: rs782526479

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144358291C>T , CM000670.2:g.144358291C>T GRCh38
NC_000008.10:g.145581951C>T , CM000670.1:g.145581951C>T GRCh37
NC_000008.9:g.145552759C>T NCBI36
NG_032872.1:g.4735C>T
NG_032872.2:g.4735C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000331890.6:c.157G>A (FBXL6) MANE Select ENSP00000330098.5:p.Gly53Ser
ENST00000532815.2:c.-111+689C>T (SLC52A2) ENSP00000501933.1:n.-111+689C>T
ENST00000675292.1:c.-110-893C>T (SLC52A2) ENSP00000502652.1:n.-110-893C>T
ENST00000675888.1:c.-110-893C>T (SLC52A2) ENSP00000502294.1:n.-110-893C>T
ENST00000331890.5:c.157G>A (FBXL6) ENSP00000330098.5:p.Gly53Ser
ENST00000455319.6:c.157G>A (FBXL6) ENSP00000403873.2:p.Gly53Ser
ENST00000524541.5:c.-110-893C>T (SLC52A2) ENSP00000434239.1:n.-110-893C>T
ENST00000530142.5:n.983G>A (FBXL6)
ENST00000532815.1:n.399+689C>T (SLC52A2)
NM_012162.3:c.157G>A (FBXL6) NP_036294.2:p.Gly53Ser
NM_024555.5:c.157G>A (FBXL6) NP_078831.4:p.Gly53Ser
NM_012162.4:c.157G>A (FBXL6) MANE Select NP_036294.2:p.Gly53Ser
NM_024555.6:c.157G>A (FBXL6) NP_078831.4:p.Gly53Ser