Canonical Allele Identifier: CA10612714
Gene: SLC19A3 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.227687194G>A
GRCh37 chr2:g.228551910G>A
gnomAD v2:
2:228551910 G / A
gnomAD v3:
2:227687194 G / A
gnomAD v4:
chr2-227687194-G-A
Joint Max Group AF 0.23410661 (AFR)
Genomes Max Group AF 0.23346429 (AFR)
Exomes Max Group AF 0.23076366 (AFR)
ClinVar Allele:
285169
ClinVar RCV:
RCV000268537
RCV001613087
ClinVar Variation:
334873
dbSNP:
80307329
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227687194G>A , CM000664.2:g.227687194G>A GRCh38
NC_000002.11:g.228551910G>A , CM000664.1:g.228551910G>A GRCh37
NC_000002.10:g.228260154G>A NCBI36
NG_016359.1:g.35836C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258403.8:c.*203C>T ENSP00000258403.3:n.*203C>T
ENST00000425817.6:c.*1719C>T ENSP00000397393.2:n.*1719C>T
ENST00000431622.6:c.*1719C>T ENSP00000400627.1:n.*1719C>T
ENST00000644224.2:c.*203C>T MANE Select ENSP00000495385.1:n.*203C>T
ENST00000645923.1:c.*888C>T ENSP00000495010.1:n.*888C>T
ENST00000646591.1:c.*203C>T ENSP00000496701.1:n.*203C>T
ENST00000647113.1:c.*682C>T ENSP00000494966.1:n.*682C>T
ENST00000676066.1:n.1424C>T
ENST00000258403.7:c.*203C>T ENSP00000258403.3:n.*203C>T
ENST00000409287.5:c.260-1025C>T ENSP00000386298.1:n.260-1025C>T
ENST00000425817.5:c.*203C>T ENSP00000397393.1:n.*203C>T
NM_025243.3:c.*203C>T NP_079519.1:n.*203C>T
XM_005246874.2:c.*203C>T XP_005246931.1:n.*203C>T
XM_006712779.2:c.*203C>T XP_006712842.1:n.*203C>T
XM_011511931.1:c.*203C>T XP_011510233.1:n.*203C>T
XM_011511932.1:c.*203C>T XP_011510234.1:n.*203C>T
XM_011511933.1:c.*203C>T XP_011510235.1:n.*203C>T
XM_005246874.3:c.*203C>T XP_005246931.1:n.*203C>T
XM_011511931.2:c.*203C>T XP_011510233.1:n.*203C>T
XM_017005030.1:c.*203C>T XP_016860519.1:n.*203C>T
XM_017005031.1:c.*203C>T XP_016860520.1:n.*203C>T
XM_017005032.1:c.*203C>T XP_016860521.1:n.*203C>T
XM_017005033.1:c.*203C>T XP_016860522.1:n.*203C>T
XM_017005034.2:c.*203C>T XP_016860523.1:n.*203C>T
NM_025243.4:c.*203C>T MANE Select NP_079519.1:n.*203C>T
NM_001371411.1:c.*203C>T NP_001358340.1:n.*203C>T
NM_001371412.1:c.*203C>T NP_001358341.1:n.*203C>T
NM_001371413.1:c.*203C>T NP_001358342.1:n.*203C>T
NM_001371414.1:c.*203C>T NP_001358343.1:n.*203C>T
Search 100 bp 5'
Search 100 bp 3'