Canonical Allele Identifier: CA377117057

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122152G>T (hg19) ; chr10:g.71362395G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362395G>T , CM000672.2:g.71362395G>T	GRCh38
NC_000010.10:g.73122152G>T , CM000672.1:g.73122152G>T	GRCh37
NC_000010.9:g.72792158G>T	NCBI36
NG_017066.1:g.48143G>T
NG_017066.2:g.48137G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697843.1:n.2691G>T
ENST00000373189.6:c.1215G>T MANE Select	ENSP00000362285.5:p.Lys405Asn
ENST00000479577.2:c.981G>T	ENSP00000493995.1:p.Lys327Asn
ENST00000642198.1:c.*787G>T	ENSP00000494827.1:n.*787G>T
ENST00000642772.1:c.*94+6152G>T	ENSP00000495041.1:n.*94+6152G>T
ENST00000643042.1:c.836G>T	ENSP00000496674.1:n.836G>T
ENST00000643619.1:c.*798G>T	ENSP00000494378.1:n.*798G>T
ENST00000643752.1:c.*541G>T	ENSP00000495000.1:n.*541G>T
ENST00000644088.1:c.*536G>T	ENSP00000494066.1:n.*536G>T
ENST00000644591.1:c.*541G>T	ENSP00000496664.1:n.*541G>T
ENST00000644895.1:c.*99+6152G>T	ENSP00000493872.1:n.*99+6152G>T
ENST00000645345.1:c.*787G>T	ENSP00000495859.1:n.*787G>T
ENST00000647524.1:c.*798G>T	ENSP00000495077.1:n.*798G>T
ENST00000373189.5:c.1215G>T	ENSP00000362285.5:p.Lys405Asn
ENST00000469204.1:n.712G>T
NM_001174098.1:c.*444G>T	NP_001167569.1:n.*444G>T
NM_018344.5:c.1215G>T	NP_060814.4:p.Lys405Asn
NR_033413.1:n.1189G>T
NR_033414.1:n.962G>T
XM_006717910.2:c.981G>T	XP_006717973.1:p.Lys327Asn
NM_001363518.1:c.981G>T	NP_001350447.1:p.Lys327Asn
XM_017016377.2:c.777G>T	XP_016871866.1:p.Lys259Asn
XM_017016378.2:c.597G>T	XP_016871867.1:p.Lys199Asn
NM_018344.6:c.1215G>T MANE Select	NP_060814.4:p.Lys405Asn
NM_001174098.2:c.*444G>T	NP_001167569.1:n.*444G>T
NM_001363518.2:c.981G>T	NP_001350447.1:p.Lys327Asn
NR_033413.2:n.1183G>T
NR_033414.2:n.956G>T