Canonical Allele Identifier: CA5543138

Gene: SLC29A3

Linked Data

• dbSNP Id: rs748622163
• ExAC: 10:73122111 C / T
• gnomAD v2: 10-73122111-C-T
• gnomAD v3: 10-71362354-C-T
• gnomAD v4: 10-71362354-C-T
• MyVariant Identifiers: chr10:g.73122111C>T (hg19) ; chr10:g.71362354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362354C>T , CM000672.2:g.71362354C>T	GRCh38
NC_000010.10:g.73122111C>T , CM000672.1:g.73122111C>T	GRCh37
NC_000010.9:g.72792117C>T	NCBI36
NG_017066.1:g.48102C>T
NG_017066.2:g.48096C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2650C>T
ENST00000373189.6:c.1174C>T MANE Select	ENSP00000362285.5:p.Leu392Phe
ENST00000479577.2:c.940C>T	ENSP00000493995.1:p.Leu314Phe
ENST00000642198.1:c.*746C>T	ENSP00000494827.1:n.*746C>T
ENST00000642772.1:c.*94+6111C>T	ENSP00000495041.1:n.*94+6111C>T
ENST00000643042.1:c.795C>T	ENSP00000496674.1:n.795C>T
ENST00000643619.1:c.*757C>T	ENSP00000494378.1:n.*757C>T
ENST00000643752.1:c.*500C>T	ENSP00000495000.1:n.*500C>T
ENST00000644088.1:c.*495C>T	ENSP00000494066.1:n.*495C>T
ENST00000644591.1:c.*500C>T	ENSP00000496664.1:n.*500C>T
ENST00000644895.1:c.*99+6111C>T	ENSP00000493872.1:n.*99+6111C>T
ENST00000645345.1:c.*746C>T	ENSP00000495859.1:n.*746C>T
ENST00000647524.1:c.*757C>T	ENSP00000495077.1:n.*757C>T
ENST00000373189.5:c.1174C>T	ENSP00000362285.5:p.Leu392Phe
ENST00000469204.1:n.671C>T
NM_001174098.1:c.*403C>T	NP_001167569.1:n.*403C>T
NM_018344.5:c.1174C>T	NP_060814.4:p.Leu392Phe
NR_033413.1:n.1148C>T
NR_033414.1:n.921C>T
XM_006717910.2:c.940C>T	XP_006717973.1:p.Leu314Phe
NM_001363518.1:c.940C>T	NP_001350447.1:p.Leu314Phe
XM_017016377.2:c.736C>T	XP_016871866.1:p.Leu246Phe
XM_017016378.2:c.556C>T	XP_016871867.1:p.Leu186Phe
NM_018344.6:c.1174C>T MANE Select	NP_060814.4:p.Leu392Phe
NM_001174098.2:c.*403C>T	NP_001167569.1:n.*403C>T
NM_001363518.2:c.940C>T	NP_001350447.1:p.Leu314Phe
NR_033413.2:n.1142C>T
NR_033414.2:n.915C>T