Canonical Allele Identifier: CA5104887

Gene: SLC28A3 SLC28A3-AS1

Linked Data

• ClinVar Variation Id: 375669
• ClinVar RCV Id: RCV001613258
• dbSNP Id: rs7853758
• ExAC: 9:86900926 G / A
• gnomAD v2: 9-86900926-G-A
• gnomAD v3: 9-84286011-G-A
• gnomAD v4: 9-84286011-G-A
• MyVariant Identifiers: chr9:g.86900926G>A (hg19) ; chr9:g.84286011G>A (hg38)
• PubMed: PMID:21900104 ; PMID:22992668 ; PMID:23441093

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.84286011G>A , CM000671.2:g.84286011G>A	GRCh38
NC_000009.11:g.86900926G>A , CM000671.1:g.86900926G>A	GRCh37
NC_000009.10:g.86090746G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376238.5:c.1381C>T (SLC28A3) MANE Select	ENSP00000365413.4:p.Leu461=
ENST00000376238.4:c.1381C>T (SLC28A3)	ENSP00000365413.4:p.Leu461=
NM_001199633.1:c.1381C>T (SLC28A3)	NP_001186562.1:p.Leu461=
NM_022127.2:c.1381C>T (SLC28A3)	NP_071410.1:p.Leu461=
NR_037638.2:n.1703C>T (SLC28A3)
XM_011518905.1:c.1465C>T (SLC28A3)	XP_011517207.1:p.Leu489=
XM_011518906.1:c.1465C>T (SLC28A3)	XP_011517208.1:p.Leu489=
XM_011518907.1:c.1132C>T (SLC28A3)	XP_011517209.1:p.Leu378=
XM_011518908.1:c.742C>T (SLC28A3)	XP_011517210.1:p.Leu248=
XR_929832.1:n.1572C>T (SLC28A3)
XR_930033.1:n.88-3031G>A (SLC28A3-AS1)
XM_011518905.2:c.1465C>T (SLC28A3)	XP_011517207.1:p.Leu489=
XM_011518906.2:c.1465C>T (SLC28A3)	XP_011517208.1:p.Leu489=
XM_011518907.2:c.1132C>T (SLC28A3)	XP_011517209.1:p.Leu378=
XM_011518908.2:c.742C>T (SLC28A3)	XP_011517210.1:p.Leu248=
XR_001746802.1:n.231-3929G>A (SLC28A3-AS1)
XR_001746803.1:n.85-3031G>A (SLC28A3-AS1)
XR_929832.2:n.1577C>T (SLC28A3)
NM_001199633.2:c.1381C>T (SLC28A3) MANE Select	NP_001186562.1:p.Leu461=
NM_022127.3:c.1381C>T (SLC28A3)	NP_071410.1:p.Leu461=
NR_037638.3:n.1682C>T (SLC28A3)