Canonical Allele Identifier: CA377113904

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73121745T>C (hg19) ; chr10:g.71361988T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71361988T>C , CM000672.2:g.71361988T>C	GRCh38
NC_000010.10:g.73121745T>C , CM000672.1:g.73121745T>C	GRCh37
NC_000010.9:g.72791751T>C	NCBI36
NG_017066.1:g.47736T>C
NG_017066.2:g.47730T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2284T>C
ENST00000373189.6:c.808T>C MANE Select	ENSP00000362285.5:p.Phe270Leu
ENST00000479577.2:c.574T>C	ENSP00000493995.1:p.Phe192Leu
ENST00000642198.1:c.*380T>C	ENSP00000494827.1:n.*380T>C
ENST00000642772.1:c.*94+5745T>C	ENSP00000495041.1:n.*94+5745T>C
ENST00000643042.1:c.429T>C	ENSP00000496674.1:n.429T>C
ENST00000643619.1:c.*391T>C	ENSP00000494378.1:n.*391T>C
ENST00000643752.1:c.*134T>C	ENSP00000495000.1:n.*134T>C
ENST00000644088.1:c.*129T>C	ENSP00000494066.1:n.*129T>C
ENST00000644591.1:c.*134T>C	ENSP00000496664.1:n.*134T>C
ENST00000644895.1:c.*99+5745T>C	ENSP00000493872.1:n.*99+5745T>C
ENST00000645345.1:c.*380T>C	ENSP00000495859.1:n.*380T>C
ENST00000647524.1:c.*391T>C	ENSP00000495077.1:n.*391T>C
ENST00000373189.5:c.808T>C	ENSP00000362285.5:p.Phe270Leu
ENST00000469204.1:n.305T>C
NM_001174098.1:c.*37T>C	NP_001167569.1:n.*37T>C
NM_018344.5:c.808T>C	NP_060814.4:p.Phe270Leu
NR_033413.1:n.782T>C
NR_033414.1:n.555T>C
XM_006717910.2:c.574T>C	XP_006717973.1:p.Phe192Leu
NM_001363518.1:c.574T>C	NP_001350447.1:p.Phe192Leu
XM_017016377.2:c.370T>C	XP_016871866.1:p.Phe124Leu
XM_017016378.2:c.190T>C	XP_016871867.1:p.Phe64Leu
NM_018344.6:c.808T>C MANE Select	NP_060814.4:p.Phe270Leu
NM_001174098.2:c.*37T>C	NP_001167569.1:n.*37T>C
NM_001363518.2:c.574T>C	NP_001350447.1:p.Phe192Leu
NR_033413.2:n.776T>C
NR_033414.2:n.549T>C