Canonical Allele Identifier: CA377115461

Gene: SLC29A3

Linked Data

• gnomAD v4: 10-71362181-A-C
• MyVariant Identifiers: chr10:g.73121938A>C (hg19) ; chr10:g.71362181A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362181A>C , CM000672.2:g.71362181A>C	GRCh38
NC_000010.10:g.73121938A>C , CM000672.1:g.73121938A>C	GRCh37
NC_000010.9:g.72791944A>C	NCBI36
NG_017066.1:g.47929A>C
NG_017066.2:g.47923A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2477A>C
ENST00000373189.6:c.1001A>C MANE Select	ENSP00000362285.5:p.Asn334Thr
ENST00000479577.2:c.767A>C	ENSP00000493995.1:p.Asn256Thr
ENST00000642198.1:c.*573A>C	ENSP00000494827.1:n.*573A>C
ENST00000642772.1:c.*94+5938A>C	ENSP00000495041.1:n.*94+5938A>C
ENST00000643042.1:c.622A>C	ENSP00000496674.1:n.622A>C
ENST00000643619.1:c.*584A>C	ENSP00000494378.1:n.*584A>C
ENST00000643752.1:c.*327A>C	ENSP00000495000.1:n.*327A>C
ENST00000644088.1:c.*322A>C	ENSP00000494066.1:n.*322A>C
ENST00000644591.1:c.*327A>C	ENSP00000496664.1:n.*327A>C
ENST00000644895.1:c.*99+5938A>C	ENSP00000493872.1:n.*99+5938A>C
ENST00000645345.1:c.*573A>C	ENSP00000495859.1:n.*573A>C
ENST00000647524.1:c.*584A>C	ENSP00000495077.1:n.*584A>C
ENST00000373189.5:c.1001A>C	ENSP00000362285.5:p.Asn334Thr
ENST00000469204.1:n.498A>C
NM_001174098.1:c.*230A>C	NP_001167569.1:n.*230A>C
NM_018344.5:c.1001A>C	NP_060814.4:p.Asn334Thr
NR_033413.1:n.975A>C
NR_033414.1:n.748A>C
XM_006717910.2:c.767A>C	XP_006717973.1:p.Asn256Thr
NM_001363518.1:c.767A>C	NP_001350447.1:p.Asn256Thr
XM_017016377.2:c.563A>C	XP_016871866.1:p.Asn188Thr
XM_017016378.2:c.383A>C	XP_016871867.1:p.Asn128Thr
NM_018344.6:c.1001A>C MANE Select	NP_060814.4:p.Asn334Thr
NM_001174098.2:c.*230A>C	NP_001167569.1:n.*230A>C
NM_001363518.2:c.767A>C	NP_001350447.1:p.Asn256Thr
NR_033413.2:n.969A>C
NR_033414.2:n.742A>C