Canonical Allele Identifier: CA2149329
Community Standard Title: NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His)
Gene: SLC19A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227699378A>G , CM000664.2:g.227699378A>G GRCh38
NC_000002.11:g.228564094A>G , CM000664.1:g.228564094A>G GRCh37
NC_000002.10:g.228272338A>G NCBI36
NG_016359.1:g.23652T>C

Transcript Alleles

HGVS Amino-acid Change
NM_025243.4:c.337T>C MANE Select NP_079519.1:p.Tyr113His
ENST00000644224.2:c.337T>C MANE Select ENSP00000495385.1:p.Tyr113His
NM_001371411.1:c.337T>C NP_001358340.1:p.Tyr113His
NM_001371412.1:c.337T>C NP_001358341.1:p.Tyr113His
NM_001371413.1:c.325T>C NP_001358342.1:p.Tyr109His
NM_001371414.1:c.325T>C NP_001358343.1:p.Tyr109His
NM_025243.3:c.337T>C NP_079519.1:p.Tyr113His
ENST00000258403.7:c.337T>C ENSP00000258403.3:p.Tyr113His
ENST00000258403.8:c.337T>C ENSP00000258403.3:p.Tyr113His
ENST00000409287.5:c.259+78T>C ENSP00000386298.1:n.259+78T>C
ENST00000425817.5:c.337T>C ENSP00000397393.1:p.Tyr113His
ENST00000425817.6:c.*362T>C ENSP00000397393.2:n.*362T>C
ENST00000431622.6:c.*362T>C ENSP00000400627.1:n.*362T>C
ENST00000456524.5:c.337T>C ENSP00000399001.1:p.Tyr113His
ENST00000456524.6:c.514T>C ENSP00000399001.2:p.Tyr172His
ENST00000642268.1:n.527T>C
ENST00000645700.1:c.151-532T>C ENSP00000495372.1:n.151-532T>C
ENST00000645923.1:c.22T>C ENSP00000495010.1:p.Tyr8His
ENST00000646591.1:c.373T>C ENSP00000496701.1:p.Tyr125His
ENST00000647113.1:c.150+2791T>C ENSP00000494966.1:n.150+2791T>C
ENST00000676066.1:n.67T>C
XM_005246874.2:c.325T>C XP_005246931.1:p.Tyr109His
XM_005246874.3:c.325T>C XP_005246931.1:p.Tyr109His
XM_006712779.2:c.352T>C XP_006712842.1:p.Tyr118His
XM_011511931.1:c.373T>C XP_011510233.1:p.Tyr125His
XM_011511931.2:c.373T>C XP_011510233.1:p.Tyr125His
XM_011511932.1:c.337T>C XP_011510234.1:p.Tyr113His
XM_011511933.1:c.337T>C XP_011510235.1:p.Tyr113His
XM_017005030.1:c.577T>C XP_016860519.1:p.Tyr193His
XM_017005031.1:c.556T>C XP_016860520.1:p.Tyr186His
XM_017005032.1:c.541T>C XP_016860521.1:p.Tyr181His
XM_017005033.1:c.541T>C XP_016860522.1:p.Tyr181His
XM_017005034.2:c.541T>C XP_016860523.1:p.Tyr181His