Canonical Allele Identifier: CA5104847
Gene: SLC28A3 HGNC NCBI
SLC28A3-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.84285454T>A
GRCh37 chr9:g.86900369T>A
Revel Score:
ENST00000376238 (MANE Select) 0.083
ENST00000537648 0.083
gnomAD v2:
9:86900369 T / A
gnomAD v3:
9:84285454 T / A
gnomAD v4:
chr9-84285454-T-A
Joint Max Group AF 0.14869467 (AFR)
Genomes Max Group AF 0.14892737 (AFR)
Exomes Max Group AF 0.1462697 (AFR)
dbSNP:
56350726
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.84285454T>A , CM000671.2:g.84285454T>A GRCh38
NC_000009.11:g.86900369T>A , CM000671.1:g.86900369T>A GRCh37
NC_000009.10:g.86090189T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376238.5:c.1538A>T (SLC28A3) MANE Select ENSP00000365413.4:p.Tyr513Phe
ENST00000376238.4:c.1538A>T (SLC28A3) ENSP00000365413.4:p.Tyr513Phe
NM_001199633.1:c.1538A>T (SLC28A3) NP_001186562.1:p.Tyr513Phe
NM_022127.2:c.1538A>T (SLC28A3) NP_071410.1:p.Tyr513Phe
NR_037638.2:n.1860A>T (SLC28A3)
XM_011518905.1:c.1622A>T (SLC28A3) XP_011517207.1:p.Tyr541Phe
XM_011518906.1:c.1622A>T (SLC28A3) XP_011517208.1:p.Tyr541Phe
XM_011518907.1:c.1289A>T (SLC28A3) XP_011517209.1:p.Tyr430Phe
XM_011518908.1:c.899A>T (SLC28A3) XP_011517210.1:p.Tyr300Phe
XR_929832.1:n.1729A>T (SLC28A3)
XR_930033.1:n.88-3588T>A (SLC28A3-AS1)
XM_011518905.2:c.1622A>T (SLC28A3) XP_011517207.1:p.Tyr541Phe
XM_011518906.2:c.1622A>T (SLC28A3) XP_011517208.1:p.Tyr541Phe
XM_011518907.2:c.1289A>T (SLC28A3) XP_011517209.1:p.Tyr430Phe
XM_011518908.2:c.899A>T (SLC28A3) XP_011517210.1:p.Tyr300Phe
XR_001746802.1:n.231-4486T>A (SLC28A3-AS1)
XR_001746803.1:n.85-3588T>A (SLC28A3-AS1)
XR_929832.2:n.1734A>T (SLC28A3)
NM_001199633.2:c.1538A>T (SLC28A3) MANE Select NP_001186562.1:p.Tyr513Phe
NM_022127.3:c.1538A>T (SLC28A3) NP_071410.1:p.Tyr513Phe
NR_037638.3:n.1839A>T (SLC28A3)
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