Canonical Allele Identifier: CA377129570

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1241742651
• gnomAD v2: 10-73103988-C-T
• gnomAD v4: 10-71344231-C-T
• COSMIC: COSM5050314
• MyVariant Identifiers: chr10:g.73103988C>T (hg19) ; chr10:g.71344231C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71344231C>T , CM000672.2:g.71344231C>T	GRCh38
NC_000010.10:g.73103988C>T , CM000672.1:g.73103988C>T	GRCh37
NC_000010.9:g.72773994C>T	NCBI36
NG_017066.1:g.29979C>T
NG_017066.2:g.29973C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.769C>T
ENST00000373189.6:c.323C>T MANE Select	ENSP00000362285.5:p.Ala108Val
ENST00000479577.2:c.89C>T	ENSP00000493995.1:p.Ala30Val
ENST00000642198.1:c.67-7331C>T	ENSP00000494827.1:n.67-7331C>T
ENST00000642772.1:c.301-11850C>T	ENSP00000495041.1:n.301-11850C>T
ENST00000643042.1:c.232-11850C>T	ENSP00000496674.1:n.232-11850C>T
ENST00000643619.1:c.89C>T	ENSP00000494378.1:p.Ala30Val
ENST00000643752.1:c.323C>T	ENSP00000495000.1:p.Ala108Val
ENST00000644088.1:c.301-11850C>T	ENSP00000494066.1:n.301-11850C>T
ENST00000644591.1:c.301-7331C>T	ENSP00000496664.1:n.301-7331C>T
ENST00000644895.1:c.301-7331C>T	ENSP00000493872.1:n.301-7331C>T
ENST00000645345.1:c.301-7331C>T	ENSP00000495859.1:n.301-7331C>T
ENST00000647524.1:c.323C>T	ENSP00000495077.1:p.Ala108Val
ENST00000373189.5:c.323C>T	ENSP00000362285.5:p.Ala108Val
NM_001174098.1:c.323C>T	NP_001167569.1:p.Ala108Val
NM_018344.5:c.323C>T	NP_060814.4:p.Ala108Val
NR_033413.1:n.358-7331C>T
NR_033414.1:n.358-11850C>T
XM_006717910.2:c.89C>T	XP_006717973.1:p.Ala30Val
XR_946051.1:n.626-2850G>A
NM_001363518.1:c.89C>T	NP_001350447.1:p.Ala30Val
XM_017016377.2:c.-55-7331C>T	XP_016871866.1:n.-55-7331C>T
XM_017016378.2:c.-8-11850C>T	XP_016871867.1:n.-8-11850C>T
XR_001747496.1:n.1552-2850G>A
XR_001747497.1:n.13G>A
XR_946051.2:n.1552-2850G>A
NM_018344.6:c.323C>T MANE Select	NP_060814.4:p.Ala108Val
NM_001174098.2:c.323C>T	NP_001167569.1:p.Ala108Val
NM_001363518.2:c.89C>T	NP_001350447.1:p.Ala30Val
NR_033413.2:n.352-7331C>T
NR_033414.2:n.352-11850C>T