Canonical Allele Identifier: CA209387841

Gene: SLC29A3

Linked Data

• dbSNP Id: rs779966426
• gnomAD v2: 10-73121858-C-T
• gnomAD v4: 10-71362101-C-T
• MyVariant Identifiers: chr10:g.73121858C>T (hg19) ; chr10:g.71362101C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362101C>T , CM000672.2:g.71362101C>T	GRCh38
NC_000010.10:g.73121858C>T , CM000672.1:g.73121858C>T	GRCh37
NC_000010.9:g.72791864C>T	NCBI36
NG_017066.1:g.47849C>T
NG_017066.2:g.47843C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2397C>T
ENST00000373189.6:c.921C>T MANE Select	ENSP00000362285.5:p.Ser307=
ENST00000479577.2:c.687C>T	ENSP00000493995.1:p.Ser229=
ENST00000642198.1:c.*493C>T	ENSP00000494827.1:n.*493C>T
ENST00000642772.1:c.*94+5858C>T	ENSP00000495041.1:n.*94+5858C>T
ENST00000643042.1:c.542C>T	ENSP00000496674.1:n.542C>T
ENST00000643619.1:c.*504C>T	ENSP00000494378.1:n.*504C>T
ENST00000643752.1:c.*247C>T	ENSP00000495000.1:n.*247C>T
ENST00000644088.1:c.*242C>T	ENSP00000494066.1:n.*242C>T
ENST00000644591.1:c.*247C>T	ENSP00000496664.1:n.*247C>T
ENST00000644895.1:c.*99+5858C>T	ENSP00000493872.1:n.*99+5858C>T
ENST00000645345.1:c.*493C>T	ENSP00000495859.1:n.*493C>T
ENST00000647524.1:c.*504C>T	ENSP00000495077.1:n.*504C>T
ENST00000373189.5:c.921C>T	ENSP00000362285.5:p.Ser307=
ENST00000469204.1:n.418C>T
NM_001174098.1:c.*150C>T	NP_001167569.1:n.*150C>T
NM_018344.5:c.921C>T	NP_060814.4:p.Ser307=
NR_033413.1:n.895C>T
NR_033414.1:n.668C>T
XM_006717910.2:c.687C>T	XP_006717973.1:p.Ser229=
NM_001363518.1:c.687C>T	NP_001350447.1:p.Ser229=
XM_017016377.2:c.483C>T	XP_016871866.1:p.Ser161=
XM_017016378.2:c.303C>T	XP_016871867.1:p.Ser101=
NM_018344.6:c.921C>T MANE Select	NP_060814.4:p.Ser307=
NM_001174098.2:c.*150C>T	NP_001167569.1:n.*150C>T
NM_001363518.2:c.687C>T	NP_001350447.1:p.Ser229=
NR_033413.2:n.889C>T
NR_033414.2:n.662C>T