Canonical Allele Identifier: CA1918678643

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1847102104
• gnomAD v4: 10-71362728-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362728C>T , CM000672.2:g.71362728C>T	GRCh38
NC_000010.10:g.73122485C>T , CM000672.1:g.73122485C>T	GRCh37
NC_000010.9:g.72792491C>T	NCBI36
NG_017066.1:g.48476C>T
NG_017066.2:g.48470C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.3024C>T
ENST00000373189.6:c.*120C>T MANE Select	ENSP00000362285.5:n.*120C>T
ENST00000479577.2:c.*120C>T	ENSP00000493995.1:n.*120C>T
ENST00000642198.1:c.*1120C>T	ENSP00000494827.1:n.*1120C>T
ENST00000642772.1:c.*94+6485C>T	ENSP00000495041.1:n.*94+6485C>T
ENST00000643042.1:c.1169C>T	ENSP00000496674.1:n.1169C>T
ENST00000643619.1:c.*1131C>T	ENSP00000494378.1:n.*1131C>T
ENST00000643752.1:c.*874C>T	ENSP00000495000.1:n.*874C>T
ENST00000644088.1:c.*869C>T	ENSP00000494066.1:n.*869C>T
ENST00000644591.1:c.*874C>T	ENSP00000496664.1:n.*874C>T
ENST00000644895.1:c.*99+6485C>T	ENSP00000493872.1:n.*99+6485C>T
ENST00000645345.1:c.*1120C>T	ENSP00000495859.1:n.*1120C>T
ENST00000647524.1:c.*1131C>T	ENSP00000495077.1:n.*1131C>T
ENST00000373189.5:c.*120C>T	ENSP00000362285.5:n.*120C>T
NM_001174098.1:c.*777C>T	NP_001167569.1:n.*777C>T
NM_018344.5:c.*120C>T	NP_060814.4:n.*120C>T
NR_033413.1:n.1522C>T
NR_033414.1:n.1295C>T
XM_006717910.2:c.*120C>T	XP_006717973.1:n.*120C>T
NM_001363518.1:c.*120C>T	NP_001350447.1:n.*120C>T
XM_017016377.2:c.*120C>T	XP_016871866.1:n.*120C>T
XM_017016378.2:c.*120C>T	XP_016871867.1:n.*120C>T
NM_018344.6:c.*120C>T MANE Select	NP_060814.4:n.*120C>T
NM_001174098.2:c.*777C>T	NP_001167569.1:n.*777C>T
NM_001363518.2:c.*120C>T	NP_001350447.1:n.*120C>T
NR_033413.2:n.1516C>T
NR_033414.2:n.1289C>T