Canonical Allele Identifier: CA377116920

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122081T>C (hg19) ; chr10:g.71362324T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362324T>C , CM000672.2:g.71362324T>C	GRCh38
NC_000010.10:g.73122081T>C , CM000672.1:g.73122081T>C	GRCh37
NC_000010.9:g.72792087T>C	NCBI36
NG_017066.1:g.48072T>C
NG_017066.2:g.48066T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2620T>C
ENST00000373189.6:c.1144T>C MANE Select	ENSP00000362285.5:p.Phe382Leu
ENST00000479577.2:c.910T>C	ENSP00000493995.1:p.Phe304Leu
ENST00000642198.1:c.*716T>C	ENSP00000494827.1:n.*716T>C
ENST00000642772.1:c.*94+6081T>C	ENSP00000495041.1:n.*94+6081T>C
ENST00000643042.1:c.765T>C	ENSP00000496674.1:n.765T>C
ENST00000643619.1:c.*727T>C	ENSP00000494378.1:n.*727T>C
ENST00000643752.1:c.*470T>C	ENSP00000495000.1:n.*470T>C
ENST00000644088.1:c.*465T>C	ENSP00000494066.1:n.*465T>C
ENST00000644591.1:c.*470T>C	ENSP00000496664.1:n.*470T>C
ENST00000644895.1:c.*99+6081T>C	ENSP00000493872.1:n.*99+6081T>C
ENST00000645345.1:c.*716T>C	ENSP00000495859.1:n.*716T>C
ENST00000647524.1:c.*727T>C	ENSP00000495077.1:n.*727T>C
ENST00000373189.5:c.1144T>C	ENSP00000362285.5:p.Phe382Leu
ENST00000469204.1:n.641T>C
NM_001174098.1:c.*373T>C	NP_001167569.1:n.*373T>C
NM_018344.5:c.1144T>C	NP_060814.4:p.Phe382Leu
NR_033413.1:n.1118T>C
NR_033414.1:n.891T>C
XM_006717910.2:c.910T>C	XP_006717973.1:p.Phe304Leu
NM_001363518.1:c.910T>C	NP_001350447.1:p.Phe304Leu
XM_017016377.2:c.706T>C	XP_016871866.1:p.Phe236Leu
XM_017016378.2:c.526T>C	XP_016871867.1:p.Phe176Leu
NM_018344.6:c.1144T>C MANE Select	NP_060814.4:p.Phe382Leu
NM_001174098.2:c.*373T>C	NP_001167569.1:n.*373T>C
NM_001363518.2:c.910T>C	NP_001350447.1:p.Phe304Leu
NR_033413.2:n.1112T>C
NR_033414.2:n.885T>C