Canonical Allele Identifier: CA138353861
Community Standard Title: NM_178148.4(SLC35B2):c.896C>T (p.Ser299Leu)
Gene: SLC35B2 HGNC NCBI
POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44255109G>A , CM000668.2:g.44255109G>A GRCh38
NC_000006.11:g.44222846G>A , CM000668.1:g.44222846G>A GRCh37
NC_000006.10:g.44330824G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_178148.4:c.896C>T (SLC35B2) MANE Select NP_835361.1:p.Ser299Leu
ENST00000393812.4:c.896C>T (SLC35B2) MANE Select ENSP00000377401.3:p.Ser299Leu
NM_001286509.1:c.881C>T (SLC35B2) NP_001273438.1:p.Ser294Leu
NM_001286509.2:c.881C>T (SLC35B2) NP_001273438.1:p.Ser294Leu
NM_001286510.1:c.881C>T (SLC35B2) NP_001273439.1:p.Ser294Leu
NM_001286510.2:c.881C>T (SLC35B2) NP_001273439.1:p.Ser294Leu
NM_001286511.1:c.749C>T (SLC35B2) NP_001273440.1:p.Ser250Leu
NM_001286511.2:c.749C>T (SLC35B2) NP_001273440.1:p.Ser250Leu
NM_001286512.1:c.749C>T (SLC35B2) NP_001273441.1:p.Ser250Leu
NM_001286512.2:c.749C>T (SLC35B2) NP_001273441.1:p.Ser250Leu
NM_001286513.1:c.617C>T (SLC35B2) NP_001273442.1:p.Ser206Leu
NM_001286513.2:c.617C>T (SLC35B2) NP_001273442.1:p.Ser206Leu
NM_001286517.1:c.581C>T (SLC35B2) NP_001273446.1:p.Ser194Leu
NM_001286517.2:c.581C>T (SLC35B2) NP_001273446.1:p.Ser194Leu
NM_001286519.1:c.497C>T (SLC35B2) NP_001273448.1:p.Ser166Leu
NM_001286519.2:c.497C>T (SLC35B2) NP_001273448.1:p.Ser166Leu
NM_001286520.1:c.497C>T (SLC35B2) NP_001273449.1:p.Ser166Leu
NM_001286520.2:c.497C>T (SLC35B2) NP_001273449.1:p.Ser166Leu
NM_001318876.2:c.946-186781G>A (POLR1C) NP_001305805.1:n.946-186781G>A
NM_178148.3:c.896C>T (SLC35B2) NP_835361.1:p.Ser299Leu
ENST00000393810.5:c.*456C>T (SLC35B2) ENSP00000377399.1:n.*456C>T
ENST00000393812.3:c.896C>T (SLC35B2) ENSP00000377401.3:p.Ser299Leu
ENST00000495706.1:n.846C>T (SLC35B2)
ENST00000537814.2:c.497C>T (SLC35B2) ENSP00000440340.1:p.Ser166Leu
ENST00000538577.5:c.617C>T (SLC35B2) ENSP00000443845.1:p.Ser206Leu
ENST00000615337.4:c.749C>T (SLC35B2) ENSP00000480681.1:p.Ser250Leu
ENST00000619636.4:c.749C>T (SLC35B2) ENSP00000483181.1:p.Ser250Leu