Canonical Allele Identifier: CA5543065

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 1426034
• ClinVar RCV Id: RCV001931182 ; RCV003167284
• dbSNP Id: rs773495153
• ExAC: 10:73121791 C / T
• gnomAD v2: 10-73121791-C-T
• gnomAD v3: 10-71362034-C-T
• gnomAD v4: 10-71362034-C-T
• COSMIC: COSM920090
• MyVariant Identifiers: chr10:g.73121791C>T (hg19) ; chr10:g.71362034C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362034C>T , CM000672.2:g.71362034C>T	GRCh38
NC_000010.10:g.73121791C>T , CM000672.1:g.73121791C>T	GRCh37
NC_000010.9:g.72791797C>T	NCBI36
NG_017066.1:g.47782C>T
NG_017066.2:g.47776C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2330C>T
ENST00000373189.6:c.854C>T MANE Select	ENSP00000362285.5:p.Ser285Leu
ENST00000479577.2:c.620C>T	ENSP00000493995.1:p.Ser207Leu
ENST00000642198.1:c.*426C>T	ENSP00000494827.1:n.*426C>T
ENST00000642772.1:c.*94+5791C>T	ENSP00000495041.1:n.*94+5791C>T
ENST00000643042.1:c.475C>T	ENSP00000496674.1:n.475C>T
ENST00000643619.1:c.*437C>T	ENSP00000494378.1:n.*437C>T
ENST00000643752.1:c.*180C>T	ENSP00000495000.1:n.*180C>T
ENST00000644088.1:c.*175C>T	ENSP00000494066.1:n.*175C>T
ENST00000644591.1:c.*180C>T	ENSP00000496664.1:n.*180C>T
ENST00000644895.1:c.*99+5791C>T	ENSP00000493872.1:n.*99+5791C>T
ENST00000645345.1:c.*426C>T	ENSP00000495859.1:n.*426C>T
ENST00000647524.1:c.*437C>T	ENSP00000495077.1:n.*437C>T
ENST00000373189.5:c.854C>T	ENSP00000362285.5:p.Ser285Leu
ENST00000469204.1:n.351C>T
NM_001174098.1:c.*83C>T	NP_001167569.1:n.*83C>T
NM_018344.5:c.854C>T	NP_060814.4:p.Ser285Leu
NR_033413.1:n.828C>T
NR_033414.1:n.601C>T
XM_006717910.2:c.620C>T	XP_006717973.1:p.Ser207Leu
NM_001363518.1:c.620C>T	NP_001350447.1:p.Ser207Leu
XM_017016377.2:c.416C>T	XP_016871866.1:p.Ser139Leu
XM_017016378.2:c.236C>T	XP_016871867.1:p.Ser79Leu
NM_018344.6:c.854C>T MANE Select	NP_060814.4:p.Ser285Leu
NM_001174098.2:c.*83C>T	NP_001167569.1:n.*83C>T
NM_001363518.2:c.620C>T	NP_001350447.1:p.Ser207Leu
NR_033413.2:n.822C>T
NR_033414.2:n.595C>T