Canonical Allele Identifier: CA377116952

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122099T>C (hg19) ; chr10:g.71362342T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362342T>C , CM000672.2:g.71362342T>C	GRCh38
NC_000010.10:g.73122099T>C , CM000672.1:g.73122099T>C	GRCh37
NC_000010.9:g.72792105T>C	NCBI36
NG_017066.1:g.48090T>C
NG_017066.2:g.48084T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2638T>C
ENST00000373189.6:c.1162T>C MANE Select	ENSP00000362285.5:p.Cys388Arg
ENST00000479577.2:c.928T>C	ENSP00000493995.1:p.Cys310Arg
ENST00000642198.1:c.*734T>C	ENSP00000494827.1:n.*734T>C
ENST00000642772.1:c.*94+6099T>C	ENSP00000495041.1:n.*94+6099T>C
ENST00000643042.1:c.783T>C	ENSP00000496674.1:n.783T>C
ENST00000643619.1:c.*745T>C	ENSP00000494378.1:n.*745T>C
ENST00000643752.1:c.*488T>C	ENSP00000495000.1:n.*488T>C
ENST00000644088.1:c.*483T>C	ENSP00000494066.1:n.*483T>C
ENST00000644591.1:c.*488T>C	ENSP00000496664.1:n.*488T>C
ENST00000644895.1:c.*99+6099T>C	ENSP00000493872.1:n.*99+6099T>C
ENST00000645345.1:c.*734T>C	ENSP00000495859.1:n.*734T>C
ENST00000647524.1:c.*745T>C	ENSP00000495077.1:n.*745T>C
ENST00000373189.5:c.1162T>C	ENSP00000362285.5:p.Cys388Arg
ENST00000469204.1:n.659T>C
NM_001174098.1:c.*391T>C	NP_001167569.1:n.*391T>C
NM_018344.5:c.1162T>C	NP_060814.4:p.Cys388Arg
NR_033413.1:n.1136T>C
NR_033414.1:n.909T>C
XM_006717910.2:c.928T>C	XP_006717973.1:p.Cys310Arg
NM_001363518.1:c.928T>C	NP_001350447.1:p.Cys310Arg
XM_017016377.2:c.724T>C	XP_016871866.1:p.Cys242Arg
XM_017016378.2:c.544T>C	XP_016871867.1:p.Cys182Arg
NM_018344.6:c.1162T>C MANE Select	NP_060814.4:p.Cys388Arg
NM_001174098.2:c.*391T>C	NP_001167569.1:n.*391T>C
NM_001363518.2:c.928T>C	NP_001350447.1:p.Cys310Arg
NR_033413.2:n.1130T>C
NR_033414.2:n.903T>C