Canonical Allele Identifier: CA350878121
Community Standard Title: NM_025243.4(SLC19A3):c.20C>G (p.Ser7Ter)
Gene: SLC19A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227702299G>C , CM000664.2:g.227702299G>C GRCh38
NC_000002.11:g.228567015G>C , CM000664.1:g.228567015G>C GRCh37
NC_000002.10:g.228275259G>C NCBI36
NG_016359.1:g.20731C>G

Transcript Alleles

HGVS Amino-acid Change
NM_025243.4:c.20C>G MANE Select NP_079519.1:p.Ser7Ter
ENST00000644224.2:c.20C>G MANE Select ENSP00000495385.1:p.Ser7Ter
NM_001371411.1:c.20C>G NP_001358340.1:p.Ser7Ter
NM_001371412.1:c.20C>G NP_001358341.1:p.Ser7Ter
NM_001371413.1:c.-189C>G NP_001358342.1:n.-189C>G
NM_001371414.1:c.-189C>G NP_001358343.1:n.-189C>G
NM_025243.3:c.20C>G NP_079519.1:p.Ser7Ter
ENST00000258403.7:c.20C>G ENSP00000258403.3:p.Ser7Ter
ENST00000258403.8:c.20C>G ENSP00000258403.3:p.Ser7Ter
ENST00000409287.5:c.20C>G ENSP00000386298.1:p.Ser7Ter
ENST00000409456.2:c.20C>G ENSP00000387193.2:p.Ser7Ter
ENST00000419059.1:c.20C>G ENSP00000398349.1:p.Ser7Ter
ENST00000425817.5:c.20C>G ENSP00000397393.1:p.Ser7Ter
ENST00000425817.6:c.20C>G ENSP00000397393.2:p.Ser7Ter
ENST00000431622.5:c.20C>G ENSP00000400627.1:p.Ser7Ter
ENST00000431622.6:c.20C>G ENSP00000400627.1:p.Ser7Ter
ENST00000456524.5:c.20C>G ENSP00000399001.1:p.Ser7Ter
ENST00000456524.6:c.197C>G ENSP00000399001.2:p.Ser66Ter
ENST00000477697.1:n.79C>G
ENST00000645700.1:c.20C>G ENSP00000495372.1:p.Ser7Ter
ENST00000645923.1:c.-165-2735C>G ENSP00000495010.1:n.-165-2735C>G
ENST00000646591.1:c.56C>G ENSP00000496701.1:p.Ser19Ter
ENST00000647113.1:c.20C>G ENSP00000494966.1:p.Ser7Ter
XM_005246874.2:c.-189C>G XP_005246931.1:n.-189C>G
XM_005246874.3:c.-189C>G XP_005246931.1:n.-189C>G
XM_006712779.2:c.35C>G XP_006712842.1:p.Ser12Ter
XM_011511931.1:c.56C>G XP_011510233.1:p.Ser19Ter
XM_011511931.2:c.56C>G XP_011510233.1:p.Ser19Ter
XM_011511932.1:c.20C>G XP_011510234.1:p.Ser7Ter
XM_011511933.1:c.20C>G XP_011510235.1:p.Ser7Ter
XM_017005030.1:c.56C>G XP_016860519.1:p.Ser19Ter
XM_017005031.1:c.35C>G XP_016860520.1:p.Ser12Ter
XM_017005032.1:c.20C>G XP_016860521.1:p.Ser7Ter
XM_017005033.1:c.20C>G XP_016860522.1:p.Ser7Ter
XM_017005034.2:c.20C>G XP_016860523.1:p.Ser7Ter