Canonical Allele Identifier: CA431664295

Gene: SLC19A3

Linked Data

• ClinVar Variation Id: 533549
• ClinVar RCV Id: RCV000640712 ; RCV001268315
• dbSNP Id: rs773140674
• gnomAD v2: 2-228563833-G-GA
• gnomAD v3: 2-227699117-G-GA
• gnomAD v4: 2-227699117-G-GA
• COSMIC: COSM5491591 ; COSM5491592
• MyVariant Identifiers: chr2:g.228563834dup (hg19) ; chr2:g.228563834_228563835insA (hg19) ; chr2:g.228563833_228563834insA (hg19) ; chr2:g.227699118dup (hg38) ; chr2:g.227699118_227699119insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227699123dup , CM000664.2:g.227699123dup	GRCh38
NC_000002.11:g.228563839dup , CM000664.1:g.228563839dup	GRCh37
NC_000002.10:g.228272083dup	NCBI36
NG_016359.1:g.23912dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258403.8:c.597dup	ENSP00000258403.3:p.His200SerfsTer25
ENST00000425817.6:c.*622dup	ENSP00000397393.2:n.*622dup
ENST00000431622.6:c.*622dup	ENSP00000400627.1:n.*622dup
ENST00000642268.1:n.787dup
ENST00000644224.2:c.597dup MANE Select	ENSP00000495385.1:p.His200SerfsTer25
ENST00000645700.1:c.151-272dup	ENSP00000495372.1:n.151-272dup
ENST00000645923.1:c.282dup	ENSP00000495010.1:p.His95SerfsTer25
ENST00000646591.1:c.633dup	ENSP00000496701.1:p.His212SerfsTer25
ENST00000647113.1:c.151-3037dup	ENSP00000494966.1:n.151-3037dup
ENST00000676066.1:n.327dup
ENST00000258403.7:c.597dup	ENSP00000258403.3:p.His200SerfsTer25
ENST00000409287.5:c.259+338dup	ENSP00000386298.1:n.259+338dup
ENST00000425817.5:c.597dup	ENSP00000397393.1:p.His200SerfsTer25
NM_025243.3:c.597dup	NP_079519.1:p.His200SerfsTer25
XM_005246874.2:c.585dup	XP_005246931.1:p.His196SerfsTer25
XM_006712779.2:c.612dup	XP_006712842.1:p.His205SerfsTer25
XM_011511931.1:c.633dup	XP_011510233.1:p.His212SerfsTer25
XM_011511932.1:c.597dup	XP_011510234.1:p.His200SerfsTer25
XM_011511933.1:c.597dup	XP_011510235.1:p.His200SerfsTer25
XM_005246874.3:c.585dup	XP_005246931.1:p.His196SerfsTer25
XM_011511931.2:c.633dup	XP_011510233.1:p.His212SerfsTer25
XM_017005030.1:c.837dup	XP_016860519.1:p.His280SerfsTer25
XM_017005031.1:c.816dup	XP_016860520.1:p.His273SerfsTer25
XM_017005032.1:c.801dup	XP_016860521.1:p.His268SerfsTer25
XM_017005033.1:c.801dup	XP_016860522.1:p.His268SerfsTer25
XM_017005034.2:c.801dup	XP_016860523.1:p.His268SerfsTer25
NM_025243.4:c.597dup MANE Select	NP_079519.1:p.His200SerfsTer25
NM_001371411.1:c.597dup	NP_001358340.1:p.His200SerfsTer25
NM_001371412.1:c.597dup	NP_001358341.1:p.His200SerfsTer25
NM_001371413.1:c.585dup	NP_001358342.1:p.His196SerfsTer25
NM_001371414.1:c.585dup	NP_001358343.1:p.His196SerfsTer25