Canonical Allele Identifier: CA377117870

Gene: SLC29A3

Linked Data

• gnomAD v4: 10-71362580-G-C
• MyVariant Identifiers: chr10:g.73122337G>C (hg19) ; chr10:g.71362580G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362580G>C , CM000672.2:g.71362580G>C	GRCh38
NC_000010.10:g.73122337G>C , CM000672.1:g.73122337G>C	GRCh37
NC_000010.9:g.72792343G>C	NCBI36
NG_017066.1:g.48328G>C
NG_017066.2:g.48322G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2876G>C
ENST00000373189.6:c.1400G>C MANE Select	ENSP00000362285.5:p.Cys467Ser
ENST00000479577.2:c.1166G>C	ENSP00000493995.1:p.Cys389Ser
ENST00000642198.1:c.*972G>C	ENSP00000494827.1:n.*972G>C
ENST00000642772.1:c.*94+6337G>C	ENSP00000495041.1:n.*94+6337G>C
ENST00000643042.1:c.1021G>C	ENSP00000496674.1:n.1021G>C
ENST00000643619.1:c.*983G>C	ENSP00000494378.1:n.*983G>C
ENST00000643752.1:c.*726G>C	ENSP00000495000.1:n.*726G>C
ENST00000644088.1:c.*721G>C	ENSP00000494066.1:n.*721G>C
ENST00000644591.1:c.*726G>C	ENSP00000496664.1:n.*726G>C
ENST00000644895.1:c.*99+6337G>C	ENSP00000493872.1:n.*99+6337G>C
ENST00000645345.1:c.*972G>C	ENSP00000495859.1:n.*972G>C
ENST00000647524.1:c.*983G>C	ENSP00000495077.1:n.*983G>C
ENST00000373189.5:c.1400G>C	ENSP00000362285.5:p.Cys467Ser
NM_001174098.1:c.*629G>C	NP_001167569.1:n.*629G>C
NM_018344.5:c.1400G>C	NP_060814.4:p.Cys467Ser
NR_033413.1:n.1374G>C
NR_033414.1:n.1147G>C
XM_006717910.2:c.1166G>C	XP_006717973.1:p.Cys389Ser
NM_001363518.1:c.1166G>C	NP_001350447.1:p.Cys389Ser
XM_017016377.2:c.962G>C	XP_016871866.1:p.Cys321Ser
XM_017016378.2:c.782G>C	XP_016871867.1:p.Cys261Ser
NM_018344.6:c.1400G>C MANE Select	NP_060814.4:p.Cys467Ser
NM_001174098.2:c.*629G>C	NP_001167569.1:n.*629G>C
NM_001363518.2:c.1166G>C	NP_001350447.1:p.Cys389Ser
NR_033413.2:n.1368G>C
NR_033414.2:n.1141G>C