Canonical Allele Identifier: CA2149087

Gene: SLC19A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227687518C>T , CM000664.2:g.227687518C>T	GRCh38
NC_000002.11:g.228552234C>T , CM000664.1:g.228552234C>T	GRCh37
NC_000002.10:g.228260478C>T	NCBI36
NG_016359.1:g.35512G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025243.4:c.1370G>A MANE Select	NP_079519.1:p.Ser457Asn
ENST00000644224.2:c.1370G>A MANE Select	ENSP00000495385.1:p.Ser457Asn
NM_001371411.1:c.1370G>A	NP_001358340.1:p.Ser457Asn
NM_001371412.1:c.1370G>A	NP_001358341.1:p.Ser457Asn
NM_001371413.1:c.1358G>A	NP_001358342.1:p.Ser453Asn
NM_001371414.1:c.1358G>A	NP_001358343.1:p.Ser453Asn
NM_025243.3:c.1370G>A	NP_079519.1:p.Ser457Asn
ENST00000258403.7:c.1370G>A	ENSP00000258403.3:p.Ser457Asn
ENST00000258403.8:c.1370G>A	ENSP00000258403.3:p.Ser457Asn
ENST00000409287.5:c.260-1349G>A	ENSP00000386298.1:n.260-1349G>A
ENST00000425817.5:c.1370G>A	ENSP00000397393.1:p.Ser457Asn
ENST00000425817.6:c.*1395G>A	ENSP00000397393.2:n.*1395G>A
ENST00000431622.6:c.*1395G>A	ENSP00000400627.1:n.*1395G>A
ENST00000642268.1:n.1560G>A
ENST00000645700.1:c.*481G>A	ENSP00000495372.1:n.*481G>A
ENST00000645923.1:c.*564G>A	ENSP00000495010.1:n.*564G>A
ENST00000646591.1:c.1406G>A	ENSP00000496701.1:p.Ser469Asn
ENST00000647113.1:c.*358G>A	ENSP00000494966.1:n.*358G>A
ENST00000676066.1:n.1100G>A
XM_005246874.2:c.1358G>A	XP_005246931.1:p.Ser453Asn
XM_005246874.3:c.1358G>A	XP_005246931.1:p.Ser453Asn
XM_006712779.2:c.1385G>A	XP_006712842.1:p.Ser462Asn
XM_011511931.1:c.1406G>A	XP_011510233.1:p.Ser469Asn
XM_011511931.2:c.1406G>A	XP_011510233.1:p.Ser469Asn
XM_011511932.1:c.1370G>A	XP_011510234.1:p.Ser457Asn
XM_011511933.1:c.1370G>A	XP_011510235.1:p.Ser457Asn
XM_017005030.1:c.1610G>A	XP_016860519.1:p.Ser537Asn
XM_017005031.1:c.1589G>A	XP_016860520.1:p.Ser530Asn
XM_017005032.1:c.1574G>A	XP_016860521.1:p.Ser525Asn
XM_017005033.1:c.1574G>A	XP_016860522.1:p.Ser525Asn
XM_017005034.2:c.1574G>A	XP_016860523.1:p.Ser525Asn