Canonical Allele Identifier: CA377116760

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 998922
• ClinVar RCV Id: RCV001294843
• dbSNP Id: rs1847082074
• gnomAD v4: 10-71362301-C-T
• MyVariant Identifiers: chr10:g.73122058C>T (hg19) ; chr10:g.71362301C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362301C>T , CM000672.2:g.71362301C>T	GRCh38
NC_000010.10:g.73122058C>T , CM000672.1:g.73122058C>T	GRCh37
NC_000010.9:g.72792064C>T	NCBI36
NG_017066.1:g.48049C>T
NG_017066.2:g.48043C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697843.1:n.2597C>T
ENST00000373189.6:c.1121C>T MANE Select	ENSP00000362285.5:p.Pro374Leu
ENST00000479577.2:c.887C>T	ENSP00000493995.1:p.Pro296Leu
ENST00000642198.1:c.*693C>T	ENSP00000494827.1:n.*693C>T
ENST00000642772.1:c.*94+6058C>T	ENSP00000495041.1:n.*94+6058C>T
ENST00000643042.1:c.742C>T	ENSP00000496674.1:n.742C>T
ENST00000643619.1:c.*704C>T	ENSP00000494378.1:n.*704C>T
ENST00000643752.1:c.*447C>T	ENSP00000495000.1:n.*447C>T
ENST00000644088.1:c.*442C>T	ENSP00000494066.1:n.*442C>T
ENST00000644591.1:c.*447C>T	ENSP00000496664.1:n.*447C>T
ENST00000644895.1:c.*99+6058C>T	ENSP00000493872.1:n.*99+6058C>T
ENST00000645345.1:c.*693C>T	ENSP00000495859.1:n.*693C>T
ENST00000647524.1:c.*704C>T	ENSP00000495077.1:n.*704C>T
ENST00000373189.5:c.1121C>T	ENSP00000362285.5:p.Pro374Leu
ENST00000469204.1:n.618C>T
NM_001174098.1:c.*350C>T	NP_001167569.1:n.*350C>T
NM_018344.5:c.1121C>T	NP_060814.4:p.Pro374Leu
NR_033413.1:n.1095C>T
NR_033414.1:n.868C>T
XM_006717910.2:c.887C>T	XP_006717973.1:p.Pro296Leu
NM_001363518.1:c.887C>T	NP_001350447.1:p.Pro296Leu
XM_017016377.2:c.683C>T	XP_016871866.1:p.Pro228Leu
XM_017016378.2:c.503C>T	XP_016871867.1:p.Pro168Leu
NM_018344.6:c.1121C>T MANE Select	NP_060814.4:p.Pro374Leu
NM_001174098.2:c.*350C>T	NP_001167569.1:n.*350C>T
NM_001363518.2:c.887C>T	NP_001350447.1:p.Pro296Leu
NR_033413.2:n.1089C>T
NR_033414.2:n.862C>T