Canonical Allele Identifier: CA66660892
Community Standard Title: NM_025243.4(SLC19A3):c.223G>A (p.Asp75Asn)
Gene: SLC19A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227699492C>T , CM000664.2:g.227699492C>T GRCh38
NC_000002.11:g.228564208C>T , CM000664.1:g.228564208C>T GRCh37
NC_000002.10:g.228272452C>T NCBI36
NG_016359.1:g.23538G>A

Transcript Alleles

HGVS Amino-acid Change
NM_025243.4:c.223G>A MANE Select NP_079519.1:p.Asp75Asn
ENST00000644224.2:c.223G>A MANE Select ENSP00000495385.1:p.Asp75Asn
NM_001371411.1:c.223G>A NP_001358340.1:p.Asp75Asn
NM_001371412.1:c.223G>A NP_001358341.1:p.Asp75Asn
NM_001371413.1:c.211G>A NP_001358342.1:p.Asp71Asn
NM_001371414.1:c.211G>A NP_001358343.1:p.Asp71Asn
NM_025243.3:c.223G>A NP_079519.1:p.Asp75Asn
ENST00000258403.7:c.223G>A ENSP00000258403.3:p.Asp75Asn
ENST00000258403.8:c.223G>A ENSP00000258403.3:p.Asp75Asn
ENST00000409287.5:c.223G>A ENSP00000386298.1:p.Asp75Asn
ENST00000425817.5:c.223G>A ENSP00000397393.1:p.Asp75Asn
ENST00000425817.6:c.*248G>A ENSP00000397393.2:n.*248G>A
ENST00000431622.5:c.*248G>A ENSP00000400627.1:n.*248G>A
ENST00000431622.6:c.*248G>A ENSP00000400627.1:n.*248G>A
ENST00000456524.5:c.223G>A ENSP00000399001.1:p.Asp75Asn
ENST00000456524.6:c.400G>A ENSP00000399001.2:p.Asp134Asn
ENST00000642268.1:n.413G>A
ENST00000645700.1:c.151-646G>A ENSP00000495372.1:n.151-646G>A
ENST00000645923.1:c.-93G>A ENSP00000495010.1:n.-93G>A
ENST00000646591.1:c.259G>A ENSP00000496701.1:p.Asp87Asn
ENST00000647113.1:c.150+2677G>A ENSP00000494966.1:n.150+2677G>A
ENST00000676066.1:n.35-82G>A
XM_005246874.2:c.211G>A XP_005246931.1:p.Asp71Asn
XM_005246874.3:c.211G>A XP_005246931.1:p.Asp71Asn
XM_006712779.2:c.238G>A XP_006712842.1:p.Asp80Asn
XM_011511931.1:c.259G>A XP_011510233.1:p.Asp87Asn
XM_011511931.2:c.259G>A XP_011510233.1:p.Asp87Asn
XM_011511932.1:c.223G>A XP_011510234.1:p.Asp75Asn
XM_011511933.1:c.223G>A XP_011510235.1:p.Asp75Asn
XM_017005030.1:c.463G>A XP_016860519.1:p.Asp155Asn
XM_017005031.1:c.442G>A XP_016860520.1:p.Asp148Asn
XM_017005032.1:c.427G>A XP_016860521.1:p.Asp143Asn
XM_017005033.1:c.427G>A XP_016860522.1:p.Asp143Asn
XM_017005034.2:c.427G>A XP_016860523.1:p.Asp143Asn