Canonical Allele Identifier: CA377117140

Gene: SLC29A3

Linked Data

• gnomAD v4: 10-71362438-T-G
• COSMIC: COSM3867730
• MyVariant Identifiers: chr10:g.73122195T>G (hg19) ; chr10:g.71362438T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362438T>G , CM000672.2:g.71362438T>G	GRCh38
NC_000010.10:g.73122195T>G , CM000672.1:g.73122195T>G	GRCh37
NC_000010.9:g.72792201T>G	NCBI36
NG_017066.1:g.48186T>G
NG_017066.2:g.48180T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2734T>G
ENST00000373189.6:c.1258T>G MANE Select	ENSP00000362285.5:p.Ser420Ala
ENST00000479577.2:c.1024T>G	ENSP00000493995.1:p.Ser342Ala
ENST00000642198.1:c.*830T>G	ENSP00000494827.1:n.*830T>G
ENST00000642772.1:c.*94+6195T>G	ENSP00000495041.1:n.*94+6195T>G
ENST00000643042.1:c.879T>G	ENSP00000496674.1:n.879T>G
ENST00000643619.1:c.*841T>G	ENSP00000494378.1:n.*841T>G
ENST00000643752.1:c.*584T>G	ENSP00000495000.1:n.*584T>G
ENST00000644088.1:c.*579T>G	ENSP00000494066.1:n.*579T>G
ENST00000644591.1:c.*584T>G	ENSP00000496664.1:n.*584T>G
ENST00000644895.1:c.*99+6195T>G	ENSP00000493872.1:n.*99+6195T>G
ENST00000645345.1:c.*830T>G	ENSP00000495859.1:n.*830T>G
ENST00000647524.1:c.*841T>G	ENSP00000495077.1:n.*841T>G
ENST00000373189.5:c.1258T>G	ENSP00000362285.5:p.Ser420Ala
ENST00000469204.1:n.755T>G
NM_001174098.1:c.*487T>G	NP_001167569.1:n.*487T>G
NM_018344.5:c.1258T>G	NP_060814.4:p.Ser420Ala
NR_033413.1:n.1232T>G
NR_033414.1:n.1005T>G
XM_006717910.2:c.1024T>G	XP_006717973.1:p.Ser342Ala
NM_001363518.1:c.1024T>G	NP_001350447.1:p.Ser342Ala
XM_017016377.2:c.820T>G	XP_016871866.1:p.Ser274Ala
XM_017016378.2:c.640T>G	XP_016871867.1:p.Ser214Ala
NM_018344.6:c.1258T>G MANE Select	NP_060814.4:p.Ser420Ala
NM_001174098.2:c.*487T>G	NP_001167569.1:n.*487T>G
NM_001363518.2:c.1024T>G	NP_001350447.1:p.Ser342Ala
NR_033413.2:n.1226T>G
NR_033414.2:n.999T>G