Canonical Allele Identifier: CA377117704

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122320A>C (hg19) ; chr10:g.71362563A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362563A>C , CM000672.2:g.71362563A>C	GRCh38
NC_000010.10:g.73122320A>C , CM000672.1:g.73122320A>C	GRCh37
NC_000010.9:g.72792326A>C	NCBI36
NG_017066.1:g.48311A>C
NG_017066.2:g.48305A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2859A>C
ENST00000373189.6:c.1383A>C MANE Select	ENSP00000362285.5:p.Leu461Phe
ENST00000479577.2:c.1149A>C	ENSP00000493995.1:p.Leu383Phe
ENST00000642198.1:c.*955A>C	ENSP00000494827.1:n.*955A>C
ENST00000642772.1:c.*94+6320A>C	ENSP00000495041.1:n.*94+6320A>C
ENST00000643042.1:c.1004A>C	ENSP00000496674.1:n.1004A>C
ENST00000643619.1:c.*966A>C	ENSP00000494378.1:n.*966A>C
ENST00000643752.1:c.*709A>C	ENSP00000495000.1:n.*709A>C
ENST00000644088.1:c.*704A>C	ENSP00000494066.1:n.*704A>C
ENST00000644591.1:c.*709A>C	ENSP00000496664.1:n.*709A>C
ENST00000644895.1:c.*99+6320A>C	ENSP00000493872.1:n.*99+6320A>C
ENST00000645345.1:c.*955A>C	ENSP00000495859.1:n.*955A>C
ENST00000647524.1:c.*966A>C	ENSP00000495077.1:n.*966A>C
ENST00000373189.5:c.1383A>C	ENSP00000362285.5:p.Leu461Phe
NM_001174098.1:c.*612A>C	NP_001167569.1:n.*612A>C
NM_018344.5:c.1383A>C	NP_060814.4:p.Leu461Phe
NR_033413.1:n.1357A>C
NR_033414.1:n.1130A>C
XM_006717910.2:c.1149A>C	XP_006717973.1:p.Leu383Phe
NM_001363518.1:c.1149A>C	NP_001350447.1:p.Leu383Phe
XM_017016377.2:c.945A>C	XP_016871866.1:p.Leu315Phe
XM_017016378.2:c.765A>C	XP_016871867.1:p.Leu255Phe
NM_018344.6:c.1383A>C MANE Select	NP_060814.4:p.Leu461Phe
NM_001174098.2:c.*612A>C	NP_001167569.1:n.*612A>C
NM_001363518.2:c.1149A>C	NP_001350447.1:p.Leu383Phe
NR_033413.2:n.1351A>C
NR_033414.2:n.1124A>C