Canonical Allele Identifier: CA350877829

Gene: SLC19A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227699565C>G , CM000664.2:g.227699565C>G	GRCh38
NC_000002.11:g.228564281C>G , CM000664.1:g.228564281C>G	GRCh37
NC_000002.10:g.228272525C>G	NCBI36
NG_016359.1:g.23465G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025243.4:c.151-1G>C MANE Select	NP_079519.1:n.151-1G>C
ENST00000644224.2:c.151-1G>C MANE Select	ENSP00000495385.1:n.151-1G>C
NM_001371411.1:c.151-1G>C	NP_001358340.1:n.151-1G>C
NM_001371412.1:c.151-1G>C	NP_001358341.1:n.151-1G>C
NM_001371413.1:c.139-1G>C	NP_001358342.1:n.139-1G>C
NM_001371414.1:c.139-1G>C	NP_001358343.1:n.139-1G>C
NM_025243.3:c.151-1G>C	NP_079519.1:n.151-1G>C
ENST00000258403.7:c.151-1G>C	ENSP00000258403.3:n.151-1G>C
ENST00000258403.8:c.151-1G>C	ENSP00000258403.3:n.151-1G>C
ENST00000409287.5:c.151-1G>C	ENSP00000386298.1:n.151-1G>C
ENST00000409456.2:c.151-1G>C	ENSP00000387193.2:n.151-1G>C
ENST00000419059.1:c.151-1G>C	ENSP00000398349.1:n.151-1G>C
ENST00000425817.5:c.151-1G>C	ENSP00000397393.1:n.151-1G>C
ENST00000425817.6:c.*176-1G>C	ENSP00000397393.2:n.*176-1G>C
ENST00000431622.5:c.*176-1G>C	ENSP00000400627.1:n.*176-1G>C
ENST00000431622.6:c.*176-1G>C	ENSP00000400627.1:n.*176-1G>C
ENST00000456524.5:c.151-1G>C	ENSP00000399001.1:n.151-1G>C
ENST00000456524.6:c.328-1G>C	ENSP00000399001.2:n.328-1G>C
ENST00000642268.1:n.341-1G>C
ENST00000645700.1:c.151-719G>C	ENSP00000495372.1:n.151-719G>C
ENST00000645923.1:c.-165-1G>C	ENSP00000495010.1:n.-165-1G>C
ENST00000646591.1:c.187-1G>C	ENSP00000496701.1:n.187-1G>C
ENST00000647113.1:c.150+2604G>C	ENSP00000494966.1:n.150+2604G>C
ENST00000676066.1:n.35-155G>C
XM_005246874.2:c.139-1G>C	XP_005246931.1:n.139-1G>C
XM_005246874.3:c.139-1G>C	XP_005246931.1:n.139-1G>C
XM_006712779.2:c.166-1G>C	XP_006712842.1:n.166-1G>C
XM_011511931.1:c.187-1G>C	XP_011510233.1:n.187-1G>C
XM_011511931.2:c.187-1G>C	XP_011510233.1:n.187-1G>C
XM_011511932.1:c.151-1G>C	XP_011510234.1:n.151-1G>C
XM_011511933.1:c.151-1G>C	XP_011510235.1:n.151-1G>C
XM_017005030.1:c.391-1G>C	XP_016860519.1:n.391-1G>C
XM_017005031.1:c.370-1G>C	XP_016860520.1:n.370-1G>C
XM_017005032.1:c.355-1G>C	XP_016860521.1:n.355-1G>C
XM_017005033.1:c.355-1G>C	XP_016860522.1:n.355-1G>C
XM_017005034.2:c.355-1G>C	XP_016860523.1:n.355-1G>C