Canonical Allele Identifier: CA2149183
Community Standard Title: NM_025243.4(SLC19A3):c.980-14A>G
Gene: SLC19A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227696095T>C , CM000664.2:g.227696095T>C GRCh38
NC_000002.11:g.228560811T>C , CM000664.1:g.228560811T>C GRCh37
NC_000002.10:g.228269055T>C NCBI36
NG_016359.1:g.26935A>G

Transcript Alleles

HGVS Amino-acid Change
NM_025243.4:c.980-14A>G MANE Select NP_079519.1:n.980-14A>G
ENST00000644224.2:c.980-14A>G MANE Select ENSP00000495385.1:n.980-14A>G
NM_001371411.1:c.980-14A>G NP_001358340.1:n.980-14A>G
NM_001371412.1:c.980-14A>G NP_001358341.1:n.980-14A>G
NM_001371413.1:c.968-14A>G NP_001358342.1:n.968-14A>G
NM_001371414.1:c.968-14A>G NP_001358343.1:n.968-14A>G
NM_025243.3:c.980-14A>G NP_079519.1:n.980-14A>G
ENST00000258403.7:c.980-14A>G ENSP00000258403.3:n.980-14A>G
ENST00000258403.8:c.980-14A>G ENSP00000258403.3:n.980-14A>G
ENST00000409287.5:c.259+3361A>G ENSP00000386298.1:n.259+3361A>G
ENST00000425817.5:c.980-14A>G ENSP00000397393.1:n.980-14A>G
ENST00000425817.6:c.*1005-14A>G ENSP00000397393.2:n.*1005-14A>G
ENST00000431622.6:c.*1005-14A>G ENSP00000400627.1:n.*1005-14A>G
ENST00000642268.1:n.1170-14A>G
ENST00000645700.1:c.*91-14A>G ENSP00000495372.1:n.*91-14A>G
ENST00000645923.1:c.665-14A>G ENSP00000495010.1:n.665-14A>G
ENST00000646591.1:c.1016-14A>G ENSP00000496701.1:n.1016-14A>G
ENST00000647113.1:c.151-14A>G ENSP00000494966.1:n.151-14A>G
ENST00000676066.1:n.710-14A>G
XM_005246874.2:c.968-14A>G XP_005246931.1:n.968-14A>G
XM_005246874.3:c.968-14A>G XP_005246931.1:n.968-14A>G
XM_006712779.2:c.995-14A>G XP_006712842.1:n.995-14A>G
XM_011511931.1:c.1016-14A>G XP_011510233.1:n.1016-14A>G
XM_011511931.2:c.1016-14A>G XP_011510233.1:n.1016-14A>G
XM_011511932.1:c.980-14A>G XP_011510234.1:n.980-14A>G
XM_011511933.1:c.980-14A>G XP_011510235.1:n.980-14A>G
XM_017005030.1:c.1220-14A>G XP_016860519.1:n.1220-14A>G
XM_017005031.1:c.1199-14A>G XP_016860520.1:n.1199-14A>G
XM_017005032.1:c.1184-14A>G XP_016860521.1:n.1184-14A>G
XM_017005033.1:c.1184-14A>G XP_016860522.1:n.1184-14A>G
XM_017005034.2:c.1184-14A>G XP_016860523.1:n.1184-14A>G