Canonical Allele Identifier: CA5104969
Gene: SLC28A3 HGNC NCBI

Linked Data

dbSNP Id: rs779125828
gnomAD v2: 9-86905123-G-A
gnomAD v4: 9-84290208-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.84290208G>A , CM000671.2:g.84290208G>A GRCh38
NC_000009.11:g.86905123G>A , CM000671.1:g.86905123G>A GRCh37
NC_000009.10:g.86094943G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000376238.5:c.1095C>T MANE Select ENSP00000365413.4:p.Thr365=
ENST00000376238.4:c.1095C>T ENSP00000365413.4:p.Thr365=
NM_001199633.1:c.1095C>T NP_001186562.1:p.Thr365=
NM_022127.2:c.1095C>T NP_071410.1:p.Thr365=
NR_037638.2:n.1417C>T
XM_011518905.1:c.1179C>T XP_011517207.1:p.Thr393=
XM_011518906.1:c.1179C>T XP_011517208.1:p.Thr393=
XM_011518907.1:c.846C>T XP_011517209.1:p.Thr282=
XM_011518908.1:c.456C>T XP_011517210.1:p.Thr152=
XM_011518910.1:c.*112C>T XP_011517212.1:n.*112C>T
XR_929832.1:n.1306C>T
XM_011518905.2:c.1179C>T XP_011517207.1:p.Thr393=
XM_011518906.2:c.1179C>T XP_011517208.1:p.Thr393=
XM_011518907.2:c.846C>T XP_011517209.1:p.Thr282=
XM_011518908.2:c.456C>T XP_011517210.1:p.Thr152=
XM_011518910.2:c.*112C>T XP_011517212.1:n.*112C>T
XR_929832.2:n.1311C>T
NM_001199633.2:c.1095C>T MANE Select NP_001186562.1:p.Thr365=
NM_022127.3:c.1095C>T NP_071410.1:p.Thr365=
NR_037638.3:n.1396C>T