Canonical Allele Identifier: CA2149273

Gene: SLC19A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227699174A>G , CM000664.2:g.227699174A>G	GRCh38
NC_000002.11:g.228563890A>G , CM000664.1:g.228563890A>G	GRCh37
NC_000002.10:g.228272134A>G	NCBI36
NG_016359.1:g.23856T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025243.4:c.541T>C MANE Select	NP_079519.1:p.Ser181Pro
ENST00000644224.2:c.541T>C MANE Select	ENSP00000495385.1:p.Ser181Pro
NM_001371411.1:c.541T>C	NP_001358340.1:p.Ser181Pro
NM_001371412.1:c.541T>C	NP_001358341.1:p.Ser181Pro
NM_001371413.1:c.529T>C	NP_001358342.1:p.Ser177Pro
NM_001371414.1:c.529T>C	NP_001358343.1:p.Ser177Pro
NM_025243.3:c.541T>C	NP_079519.1:p.Ser181Pro
ENST00000258403.7:c.541T>C	ENSP00000258403.3:p.Ser181Pro
ENST00000258403.8:c.541T>C	ENSP00000258403.3:p.Ser181Pro
ENST00000409287.5:c.259+282T>C	ENSP00000386298.1:n.259+282T>C
ENST00000425817.5:c.541T>C	ENSP00000397393.1:p.Ser181Pro
ENST00000425817.6:c.*566T>C	ENSP00000397393.2:n.*566T>C
ENST00000431622.6:c.*566T>C	ENSP00000400627.1:n.*566T>C
ENST00000642268.1:n.731T>C
ENST00000645700.1:c.151-328T>C	ENSP00000495372.1:n.151-328T>C
ENST00000645923.1:c.226T>C	ENSP00000495010.1:p.Ser76Pro
ENST00000646591.1:c.577T>C	ENSP00000496701.1:p.Ser193Pro
ENST00000647113.1:c.150+2995T>C	ENSP00000494966.1:n.150+2995T>C
ENST00000676066.1:n.271T>C
XM_005246874.2:c.529T>C	XP_005246931.1:p.Ser177Pro
XM_005246874.3:c.529T>C	XP_005246931.1:p.Ser177Pro
XM_006712779.2:c.556T>C	XP_006712842.1:p.Ser186Pro
XM_011511931.1:c.577T>C	XP_011510233.1:p.Ser193Pro
XM_011511931.2:c.577T>C	XP_011510233.1:p.Ser193Pro
XM_011511932.1:c.541T>C	XP_011510234.1:p.Ser181Pro
XM_011511933.1:c.541T>C	XP_011510235.1:p.Ser181Pro
XM_017005030.1:c.781T>C	XP_016860519.1:p.Ser261Pro
XM_017005031.1:c.760T>C	XP_016860520.1:p.Ser254Pro
XM_017005032.1:c.745T>C	XP_016860521.1:p.Ser249Pro
XM_017005033.1:c.745T>C	XP_016860522.1:p.Ser249Pro
XM_017005034.2:c.745T>C	XP_016860523.1:p.Ser249Pro