Canonical Allele Identifier: CA209388248

Gene: SLC29A3

Linked Data

• dbSNP Id: rs908374895
• gnomAD v4: 10-71362504-C-T
• MyVariant Identifiers: chr10:g.73122261C>T (hg19) ; chr10:g.71362504C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362504C>T , CM000672.2:g.71362504C>T	GRCh38
NC_000010.10:g.73122261C>T , CM000672.1:g.73122261C>T	GRCh37
NC_000010.9:g.72792267C>T	NCBI36
NG_017066.1:g.48252C>T
NG_017066.2:g.48246C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2800C>T
ENST00000373189.6:c.1324C>T MANE Select	ENSP00000362285.5:p.Pro442Ser
ENST00000479577.2:c.1090C>T	ENSP00000493995.1:p.Pro364Ser
ENST00000642198.1:c.*896C>T	ENSP00000494827.1:n.*896C>T
ENST00000642772.1:c.*94+6261C>T	ENSP00000495041.1:n.*94+6261C>T
ENST00000643042.1:c.945C>T	ENSP00000496674.1:n.945C>T
ENST00000643619.1:c.*907C>T	ENSP00000494378.1:n.*907C>T
ENST00000643752.1:c.*650C>T	ENSP00000495000.1:n.*650C>T
ENST00000644088.1:c.*645C>T	ENSP00000494066.1:n.*645C>T
ENST00000644591.1:c.*650C>T	ENSP00000496664.1:n.*650C>T
ENST00000644895.1:c.*99+6261C>T	ENSP00000493872.1:n.*99+6261C>T
ENST00000645345.1:c.*896C>T	ENSP00000495859.1:n.*896C>T
ENST00000647524.1:c.*907C>T	ENSP00000495077.1:n.*907C>T
ENST00000373189.5:c.1324C>T	ENSP00000362285.5:p.Pro442Ser
ENST00000469204.1:n.821C>T
NM_001174098.1:c.*553C>T	NP_001167569.1:n.*553C>T
NM_018344.5:c.1324C>T	NP_060814.4:p.Pro442Ser
NR_033413.1:n.1298C>T
NR_033414.1:n.1071C>T
XM_006717910.2:c.1090C>T	XP_006717973.1:p.Pro364Ser
NM_001363518.1:c.1090C>T	NP_001350447.1:p.Pro364Ser
XM_017016377.2:c.886C>T	XP_016871866.1:p.Pro296Ser
XM_017016378.2:c.706C>T	XP_016871867.1:p.Pro236Ser
NM_018344.6:c.1324C>T MANE Select	NP_060814.4:p.Pro442Ser
NM_001174098.2:c.*553C>T	NP_001167569.1:n.*553C>T
NM_001363518.2:c.1090C>T	NP_001350447.1:p.Pro364Ser
NR_033413.2:n.1292C>T
NR_033414.2:n.1065C>T