Canonical Allele Identifier: CA5543060

Gene: SLC29A3

Linked Data

• dbSNP Id: rs769809379
• ExAC: 10:73121744 GT / G
• gnomAD v2: 10-73121744-GT-G
• gnomAD v3: 10-71361987-GT-G
• gnomAD v4: 10-71361987-GT-G
• MyVariant Identifiers: chr10:g.73121745del (hg19) ; chr10:g.71361988del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71361991del , CM000672.2:g.71361991del	GRCh38
NC_000010.10:g.73121748del , CM000672.1:g.73121748del	GRCh37
NC_000010.9:g.72791754del	NCBI36
NG_017066.1:g.47739del
NG_017066.2:g.47733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2287del
ENST00000373189.6:c.811del MANE Select	ENSP00000362285.5:p.Ser271LeufsTer?
ENST00000479577.2:c.577del	ENSP00000493995.1:p.Ser193LeufsTer?
ENST00000642198.1:c.*383del	ENSP00000494827.1:n.*383del
ENST00000642772.1:c.*94+5748del	ENSP00000495041.1:n.*94+5748del
ENST00000643042.1:c.432del	ENSP00000496674.1:n.432del
ENST00000643619.1:c.*394del	ENSP00000494378.1:n.*394del
ENST00000643752.1:c.*137del	ENSP00000495000.1:n.*137del
ENST00000644088.1:c.*132del	ENSP00000494066.1:n.*132del
ENST00000644591.1:c.*137del	ENSP00000496664.1:n.*137del
ENST00000644895.1:c.*99+5748del	ENSP00000493872.1:n.*99+5748del
ENST00000645345.1:c.*383del	ENSP00000495859.1:n.*383del
ENST00000647524.1:c.*394del	ENSP00000495077.1:n.*394del
ENST00000373189.5:c.811del	ENSP00000362285.5:p.Ser271LeufsTer?
ENST00000469204.1:n.308del
NM_001174098.1:c.*40del	NP_001167569.1:n.*40del
NM_018344.5:c.811del	NP_060814.4:p.Ser271LeufsTer?
NR_033413.1:n.785del
NR_033414.1:n.558del
XM_006717910.2:c.577del	XP_006717973.1:p.Ser193LeufsTer?
NM_001363518.1:c.577del	NP_001350447.1:p.Ser193LeufsTer?
XM_017016377.2:c.373del	XP_016871866.1:p.Ser125LeufsTer?
XM_017016378.2:c.193del	XP_016871867.1:p.Ser65LeufsTer?
NM_018344.6:c.811del MANE Select	NP_060814.4:p.Ser271LeufsTer?
NM_001174098.2:c.*40del	NP_001167569.1:n.*40del
NM_001363518.2:c.577del	NP_001350447.1:p.Ser193LeufsTer?
NR_033413.2:n.779del
NR_033414.2:n.552del