Canonical Allele Identifier: CA540306932

Gene: SLC19A3

Linked Data

• dbSNP Id: rs778504868
• gnomAD v2: 2-228563448-T-G
• gnomAD v4: 2-227698732-T-G
• MyVariant Identifiers: chr2:g.228563448T>G (hg19) ; chr2:g.227698732T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227698732T>G , CM000664.2:g.227698732T>G	GRCh38
NC_000002.11:g.228563448T>G , CM000664.1:g.228563448T>G	GRCh37
NC_000002.10:g.228271692T>G	NCBI36
NG_016359.1:g.24298A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258403.8:c.979+4A>C	ENSP00000258403.3:n.979+4A>C
ENST00000425817.6:c.*1004+4A>C	ENSP00000397393.2:n.*1004+4A>C
ENST00000431622.6:c.*1004+4A>C	ENSP00000400627.1:n.*1004+4A>C
ENST00000642268.1:n.1169+4A>C
ENST00000644224.2:c.979+4A>C MANE Select	ENSP00000495385.1:n.979+4A>C
ENST00000645700.1:c.*90+4A>C	ENSP00000495372.1:n.*90+4A>C
ENST00000645923.1:c.664+4A>C	ENSP00000495010.1:n.664+4A>C
ENST00000646591.1:c.1015+4A>C	ENSP00000496701.1:n.1015+4A>C
ENST00000647113.1:c.151-2651A>C	ENSP00000494966.1:n.151-2651A>C
ENST00000676066.1:n.709+4A>C
ENST00000258403.7:c.979+4A>C	ENSP00000258403.3:n.979+4A>C
ENST00000409287.5:c.259+724A>C	ENSP00000386298.1:n.259+724A>C
ENST00000425817.5:c.979+4A>C	ENSP00000397393.1:n.979+4A>C
NM_025243.3:c.979+4A>C	NP_079519.1:n.979+4A>C
XM_005246874.2:c.967+4A>C	XP_005246931.1:n.967+4A>C
XM_006712779.2:c.994+4A>C	XP_006712842.1:n.994+4A>C
XM_011511931.1:c.1015+4A>C	XP_011510233.1:n.1015+4A>C
XM_011511932.1:c.979+4A>C	XP_011510234.1:n.979+4A>C
XM_011511933.1:c.979+4A>C	XP_011510235.1:n.979+4A>C
XM_005246874.3:c.967+4A>C	XP_005246931.1:n.967+4A>C
XM_011511931.2:c.1015+4A>C	XP_011510233.1:n.1015+4A>C
XM_017005030.1:c.1219+4A>C	XP_016860519.1:n.1219+4A>C
XM_017005031.1:c.1198+4A>C	XP_016860520.1:n.1198+4A>C
XM_017005032.1:c.1183+4A>C	XP_016860521.1:n.1183+4A>C
XM_017005033.1:c.1183+4A>C	XP_016860522.1:n.1183+4A>C
XM_017005034.2:c.1183+4A>C	XP_016860523.1:n.1183+4A>C
NM_025243.4:c.979+4A>C MANE Select	NP_079519.1:n.979+4A>C
NM_001371411.1:c.979+4A>C	NP_001358340.1:n.979+4A>C
NM_001371412.1:c.979+4A>C	NP_001358341.1:n.979+4A>C
NM_001371413.1:c.967+4A>C	NP_001358342.1:n.967+4A>C
NM_001371414.1:c.967+4A>C	NP_001358343.1:n.967+4A>C