Canonical Allele Identifier: CA350877726
Community Standard Title: NM_025243.4(SLC19A3):c.197T>C (p.Leu66Pro)
Gene: SLC19A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227699518A>G , CM000664.2:g.227699518A>G GRCh38
NC_000002.11:g.228564234A>G , CM000664.1:g.228564234A>G GRCh37
NC_000002.10:g.228272478A>G NCBI36
NG_016359.1:g.23512T>C

Transcript Alleles

HGVS Amino-acid Change
NM_025243.4:c.197T>C MANE Select NP_079519.1:p.Leu66Pro
ENST00000644224.2:c.197T>C MANE Select ENSP00000495385.1:p.Leu66Pro
NM_001371411.1:c.197T>C NP_001358340.1:p.Leu66Pro
NM_001371412.1:c.197T>C NP_001358341.1:p.Leu66Pro
NM_001371413.1:c.185T>C NP_001358342.1:p.Leu62Pro
NM_001371414.1:c.185T>C NP_001358343.1:p.Leu62Pro
NM_025243.3:c.197T>C NP_079519.1:p.Leu66Pro
ENST00000258403.7:c.197T>C ENSP00000258403.3:p.Leu66Pro
ENST00000258403.8:c.197T>C ENSP00000258403.3:p.Leu66Pro
ENST00000409287.5:c.197T>C ENSP00000386298.1:p.Leu66Pro
ENST00000425817.5:c.197T>C ENSP00000397393.1:p.Leu66Pro
ENST00000425817.6:c.*222T>C ENSP00000397393.2:n.*222T>C
ENST00000431622.5:c.*222T>C ENSP00000400627.1:n.*222T>C
ENST00000431622.6:c.*222T>C ENSP00000400627.1:n.*222T>C
ENST00000456524.5:c.197T>C ENSP00000399001.1:p.Leu66Pro
ENST00000456524.6:c.374T>C ENSP00000399001.2:p.Leu125Pro
ENST00000642268.1:n.387T>C
ENST00000645700.1:c.151-672T>C ENSP00000495372.1:n.151-672T>C
ENST00000645923.1:c.-119T>C ENSP00000495010.1:n.-119T>C
ENST00000646591.1:c.233T>C ENSP00000496701.1:p.Leu78Pro
ENST00000647113.1:c.150+2651T>C ENSP00000494966.1:n.150+2651T>C
ENST00000676066.1:n.35-108T>C
XM_005246874.2:c.185T>C XP_005246931.1:p.Leu62Pro
XM_005246874.3:c.185T>C XP_005246931.1:p.Leu62Pro
XM_006712779.2:c.212T>C XP_006712842.1:p.Leu71Pro
XM_011511931.1:c.233T>C XP_011510233.1:p.Leu78Pro
XM_011511931.2:c.233T>C XP_011510233.1:p.Leu78Pro
XM_011511932.1:c.197T>C XP_011510234.1:p.Leu66Pro
XM_011511933.1:c.197T>C XP_011510235.1:p.Leu66Pro
XM_017005030.1:c.437T>C XP_016860519.1:p.Leu146Pro
XM_017005031.1:c.416T>C XP_016860520.1:p.Leu139Pro
XM_017005032.1:c.401T>C XP_016860521.1:p.Leu134Pro
XM_017005033.1:c.401T>C XP_016860522.1:p.Leu134Pro
XM_017005034.2:c.401T>C XP_016860523.1:p.Leu134Pro