Canonical Allele Identifier: CA350875508
Gene: SLC19A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 427109
ClinVar RCV Id: RCV000489741
dbSNP Id: rs1085307963

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227688252T>G , CM000664.2:g.227688252T>G GRCh38
NC_000002.11:g.228552968T>G , CM000664.1:g.228552968T>G GRCh37
NC_000002.10:g.228261212T>G NCBI36
NG_016359.1:g.34778A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258403.8:c.1228A>C ENSP00000258403.3:p.Asn410His
ENST00000425817.6:c.*1253A>C ENSP00000397393.2:n.*1253A>C
ENST00000431622.6:c.*1253A>C ENSP00000400627.1:n.*1253A>C
ENST00000642268.1:n.1418A>C
ENST00000644224.2:c.1228A>C MANE Select ENSP00000495385.1:p.Asn410His
ENST00000645700.1:c.*339A>C ENSP00000495372.1:n.*339A>C
ENST00000645923.1:c.*422A>C ENSP00000495010.1:n.*422A>C
ENST00000646591.1:c.1264A>C ENSP00000496701.1:p.Asn422His
ENST00000647113.1:c.*216A>C ENSP00000494966.1:n.*216A>C
ENST00000676066.1:n.958A>C
ENST00000258403.7:c.1228A>C ENSP00000258403.3:p.Asn410His
ENST00000409287.5:c.260-2083A>C ENSP00000386298.1:n.260-2083A>C
ENST00000425817.5:c.1228A>C ENSP00000397393.1:p.Asn410His
NM_025243.3:c.1228A>C NP_079519.1:p.Asn410His
XM_005246874.2:c.1216A>C XP_005246931.1:p.Asn406His
XM_006712779.2:c.1243A>C XP_006712842.1:p.Asn415His
XM_011511931.1:c.1264A>C XP_011510233.1:p.Asn422His
XM_011511932.1:c.1228A>C XP_011510234.1:p.Asn410His
XM_011511933.1:c.1228A>C XP_011510235.1:p.Asn410His
XM_005246874.3:c.1216A>C XP_005246931.1:p.Asn406His
XM_011511931.2:c.1264A>C XP_011510233.1:p.Asn422His
XM_017005030.1:c.1468A>C XP_016860519.1:p.Asn490His
XM_017005031.1:c.1447A>C XP_016860520.1:p.Asn483His
XM_017005032.1:c.1432A>C XP_016860521.1:p.Asn478His
XM_017005033.1:c.1432A>C XP_016860522.1:p.Asn478His
XM_017005034.2:c.1432A>C XP_016860523.1:p.Asn478His
NM_025243.4:c.1228A>C MANE Select NP_079519.1:p.Asn410His
NM_001371411.1:c.1228A>C NP_001358340.1:p.Asn410His
NM_001371412.1:c.1228A>C NP_001358341.1:p.Asn410His
NM_001371413.1:c.1216A>C NP_001358342.1:p.Asn406His
NM_001371414.1:c.1216A>C NP_001358343.1:p.Asn406His