Canonical Allele Identifier: CA377117129

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122190T>C (hg19) ; chr10:g.71362433T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362433T>C , CM000672.2:g.71362433T>C	GRCh38
NC_000010.10:g.73122190T>C , CM000672.1:g.73122190T>C	GRCh37
NC_000010.9:g.72792196T>C	NCBI36
NG_017066.1:g.48181T>C
NG_017066.2:g.48175T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2729T>C
ENST00000373189.6:c.1253T>C MANE Select	ENSP00000362285.5:p.Leu418Pro
ENST00000479577.2:c.1019T>C	ENSP00000493995.1:p.Leu340Pro
ENST00000642198.1:c.*825T>C	ENSP00000494827.1:n.*825T>C
ENST00000642772.1:c.*94+6190T>C	ENSP00000495041.1:n.*94+6190T>C
ENST00000643042.1:c.874T>C	ENSP00000496674.1:n.874T>C
ENST00000643619.1:c.*836T>C	ENSP00000494378.1:n.*836T>C
ENST00000643752.1:c.*579T>C	ENSP00000495000.1:n.*579T>C
ENST00000644088.1:c.*574T>C	ENSP00000494066.1:n.*574T>C
ENST00000644591.1:c.*579T>C	ENSP00000496664.1:n.*579T>C
ENST00000644895.1:c.*99+6190T>C	ENSP00000493872.1:n.*99+6190T>C
ENST00000645345.1:c.*825T>C	ENSP00000495859.1:n.*825T>C
ENST00000647524.1:c.*836T>C	ENSP00000495077.1:n.*836T>C
ENST00000373189.5:c.1253T>C	ENSP00000362285.5:p.Leu418Pro
ENST00000469204.1:n.750T>C
NM_001174098.1:c.*482T>C	NP_001167569.1:n.*482T>C
NM_018344.5:c.1253T>C	NP_060814.4:p.Leu418Pro
NR_033413.1:n.1227T>C
NR_033414.1:n.1000T>C
XM_006717910.2:c.1019T>C	XP_006717973.1:p.Leu340Pro
NM_001363518.1:c.1019T>C	NP_001350447.1:p.Leu340Pro
XM_017016377.2:c.815T>C	XP_016871866.1:p.Leu272Pro
XM_017016378.2:c.635T>C	XP_016871867.1:p.Leu212Pro
NM_018344.6:c.1253T>C MANE Select	NP_060814.4:p.Leu418Pro
NM_001174098.2:c.*482T>C	NP_001167569.1:n.*482T>C
NM_001363518.2:c.1019T>C	NP_001350447.1:p.Leu340Pro
NR_033413.2:n.1221T>C
NR_033414.2:n.994T>C