Canonical Allele Identifier: CA377116872

Gene: SLC29A3

Linked Data

• COSMIC: COSM5743409
• MyVariant Identifiers: chr10:g.73122068G>T (hg19) ; chr10:g.71362311G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362311G>T , CM000672.2:g.71362311G>T	GRCh38
NC_000010.10:g.73122068G>T , CM000672.1:g.73122068G>T	GRCh37
NC_000010.9:g.72792074G>T	NCBI36
NG_017066.1:g.48059G>T
NG_017066.2:g.48053G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2607G>T
ENST00000373189.6:c.1131G>T MANE Select	ENSP00000362285.5:p.Lys377Asn
ENST00000479577.2:c.897G>T	ENSP00000493995.1:p.Lys299Asn
ENST00000642198.1:c.*703G>T	ENSP00000494827.1:n.*703G>T
ENST00000642772.1:c.*94+6068G>T	ENSP00000495041.1:n.*94+6068G>T
ENST00000643042.1:c.752G>T	ENSP00000496674.1:n.752G>T
ENST00000643619.1:c.*714G>T	ENSP00000494378.1:n.*714G>T
ENST00000643752.1:c.*457G>T	ENSP00000495000.1:n.*457G>T
ENST00000644088.1:c.*452G>T	ENSP00000494066.1:n.*452G>T
ENST00000644591.1:c.*457G>T	ENSP00000496664.1:n.*457G>T
ENST00000644895.1:c.*99+6068G>T	ENSP00000493872.1:n.*99+6068G>T
ENST00000645345.1:c.*703G>T	ENSP00000495859.1:n.*703G>T
ENST00000647524.1:c.*714G>T	ENSP00000495077.1:n.*714G>T
ENST00000373189.5:c.1131G>T	ENSP00000362285.5:p.Lys377Asn
ENST00000469204.1:n.628G>T
NM_001174098.1:c.*360G>T	NP_001167569.1:n.*360G>T
NM_018344.5:c.1131G>T	NP_060814.4:p.Lys377Asn
NR_033413.1:n.1105G>T
NR_033414.1:n.878G>T
XM_006717910.2:c.897G>T	XP_006717973.1:p.Lys299Asn
NM_001363518.1:c.897G>T	NP_001350447.1:p.Lys299Asn
XM_017016377.2:c.693G>T	XP_016871866.1:p.Lys231Asn
XM_017016378.2:c.513G>T	XP_016871867.1:p.Lys171Asn
NM_018344.6:c.1131G>T MANE Select	NP_060814.4:p.Lys377Asn
NM_001174098.2:c.*360G>T	NP_001167569.1:n.*360G>T
NM_001363518.2:c.897G>T	NP_001350447.1:p.Lys299Asn
NR_033413.2:n.1099G>T
NR_033414.2:n.872G>T