Canonical Allele Identifier: CA377117209

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1589244825
• MyVariant Identifiers: chr10:g.73122232T>C (hg19) ; chr10:g.71362475T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362475T>C , CM000672.2:g.71362475T>C	GRCh38
NC_000010.10:g.73122232T>C , CM000672.1:g.73122232T>C	GRCh37
NC_000010.9:g.72792238T>C	NCBI36
NG_017066.1:g.48223T>C
NG_017066.2:g.48217T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2771T>C
ENST00000373189.6:c.1295T>C MANE Select	ENSP00000362285.5:p.Leu432Pro
ENST00000479577.2:c.1061T>C	ENSP00000493995.1:p.Leu354Pro
ENST00000642198.1:c.*867T>C	ENSP00000494827.1:n.*867T>C
ENST00000642772.1:c.*94+6232T>C	ENSP00000495041.1:n.*94+6232T>C
ENST00000643042.1:c.916T>C	ENSP00000496674.1:n.916T>C
ENST00000643619.1:c.*878T>C	ENSP00000494378.1:n.*878T>C
ENST00000643752.1:c.*621T>C	ENSP00000495000.1:n.*621T>C
ENST00000644088.1:c.*616T>C	ENSP00000494066.1:n.*616T>C
ENST00000644591.1:c.*621T>C	ENSP00000496664.1:n.*621T>C
ENST00000644895.1:c.*99+6232T>C	ENSP00000493872.1:n.*99+6232T>C
ENST00000645345.1:c.*867T>C	ENSP00000495859.1:n.*867T>C
ENST00000647524.1:c.*878T>C	ENSP00000495077.1:n.*878T>C
ENST00000373189.5:c.1295T>C	ENSP00000362285.5:p.Leu432Pro
ENST00000469204.1:n.792T>C
NM_001174098.1:c.*524T>C	NP_001167569.1:n.*524T>C
NM_018344.5:c.1295T>C	NP_060814.4:p.Leu432Pro
NR_033413.1:n.1269T>C
NR_033414.1:n.1042T>C
XM_006717910.2:c.1061T>C	XP_006717973.1:p.Leu354Pro
NM_001363518.1:c.1061T>C	NP_001350447.1:p.Leu354Pro
XM_017016377.2:c.857T>C	XP_016871866.1:p.Leu286Pro
XM_017016378.2:c.677T>C	XP_016871867.1:p.Leu226Pro
NM_018344.6:c.1295T>C MANE Select	NP_060814.4:p.Leu432Pro
NM_001174098.2:c.*524T>C	NP_001167569.1:n.*524T>C
NM_001363518.2:c.1061T>C	NP_001350447.1:p.Leu354Pro
NR_033413.2:n.1263T>C
NR_033414.2:n.1036T>C