Canonical Allele Identifier: CA377117000

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122124G>T (hg19) ; chr10:g.71362367G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362367G>T , CM000672.2:g.71362367G>T	GRCh38
NC_000010.10:g.73122124G>T , CM000672.1:g.73122124G>T	GRCh37
NC_000010.9:g.72792130G>T	NCBI36
NG_017066.1:g.48115G>T
NG_017066.2:g.48109G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2663G>T
ENST00000373189.6:c.1187G>T MANE Select	ENSP00000362285.5:p.Cys396Phe
ENST00000479577.2:c.953G>T	ENSP00000493995.1:p.Cys318Phe
ENST00000642198.1:c.*759G>T	ENSP00000494827.1:n.*759G>T
ENST00000642772.1:c.*94+6124G>T	ENSP00000495041.1:n.*94+6124G>T
ENST00000643042.1:c.808G>T	ENSP00000496674.1:n.808G>T
ENST00000643619.1:c.*770G>T	ENSP00000494378.1:n.*770G>T
ENST00000643752.1:c.*513G>T	ENSP00000495000.1:n.*513G>T
ENST00000644088.1:c.*508G>T	ENSP00000494066.1:n.*508G>T
ENST00000644591.1:c.*513G>T	ENSP00000496664.1:n.*513G>T
ENST00000644895.1:c.*99+6124G>T	ENSP00000493872.1:n.*99+6124G>T
ENST00000645345.1:c.*759G>T	ENSP00000495859.1:n.*759G>T
ENST00000647524.1:c.*770G>T	ENSP00000495077.1:n.*770G>T
ENST00000373189.5:c.1187G>T	ENSP00000362285.5:p.Cys396Phe
ENST00000469204.1:n.684G>T
NM_001174098.1:c.*416G>T	NP_001167569.1:n.*416G>T
NM_018344.5:c.1187G>T	NP_060814.4:p.Cys396Phe
NR_033413.1:n.1161G>T
NR_033414.1:n.934G>T
XM_006717910.2:c.953G>T	XP_006717973.1:p.Cys318Phe
NM_001363518.1:c.953G>T	NP_001350447.1:p.Cys318Phe
XM_017016377.2:c.749G>T	XP_016871866.1:p.Cys250Phe
XM_017016378.2:c.569G>T	XP_016871867.1:p.Cys190Phe
NM_018344.6:c.1187G>T MANE Select	NP_060814.4:p.Cys396Phe
NM_001174098.2:c.*416G>T	NP_001167569.1:n.*416G>T
NM_001363518.2:c.953G>T	NP_001350447.1:p.Cys318Phe
NR_033413.2:n.1155G>T
NR_033414.2:n.928G>T