Canonical Allele Identifier: CA377114121
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362018T>G , CM000672.2:g.71362018T>G GRCh38
NC_000010.10:g.73121775T>G , CM000672.1:g.73121775T>G GRCh37
NC_000010.9:g.72791781T>G NCBI36
NG_017066.1:g.47766T>G
NG_017066.2:g.47760T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2314T>G
ENST00000373189.6:c.838T>G MANE Select ENSP00000362285.5:p.Ser280Ala
ENST00000479577.2:c.604T>G ENSP00000493995.1:p.Ser202Ala
ENST00000642198.1:c.*410T>G ENSP00000494827.1:n.*410T>G
ENST00000642772.1:c.*94+5775T>G ENSP00000495041.1:n.*94+5775T>G
ENST00000643042.1:c.459T>G ENSP00000496674.1:n.459T>G
ENST00000643619.1:c.*421T>G ENSP00000494378.1:n.*421T>G
ENST00000643752.1:c.*164T>G ENSP00000495000.1:n.*164T>G
ENST00000644088.1:c.*159T>G ENSP00000494066.1:n.*159T>G
ENST00000644591.1:c.*164T>G ENSP00000496664.1:n.*164T>G
ENST00000644895.1:c.*99+5775T>G ENSP00000493872.1:n.*99+5775T>G
ENST00000645345.1:c.*410T>G ENSP00000495859.1:n.*410T>G
ENST00000647524.1:c.*421T>G ENSP00000495077.1:n.*421T>G
ENST00000373189.5:c.838T>G ENSP00000362285.5:p.Ser280Ala
ENST00000469204.1:n.335T>G
NM_001174098.1:c.*67T>G NP_001167569.1:n.*67T>G
NM_018344.5:c.838T>G NP_060814.4:p.Ser280Ala
NR_033413.1:n.812T>G
NR_033414.1:n.585T>G
XM_006717910.2:c.604T>G XP_006717973.1:p.Ser202Ala
NM_001363518.1:c.604T>G NP_001350447.1:p.Ser202Ala
XM_017016377.2:c.400T>G XP_016871866.1:p.Ser134Ala
XM_017016378.2:c.220T>G XP_016871867.1:p.Ser74Ala
NM_018344.6:c.838T>G MANE Select NP_060814.4:p.Ser280Ala
NM_001174098.2:c.*67T>G NP_001167569.1:n.*67T>G
NM_001363518.2:c.604T>G NP_001350447.1:p.Ser202Ala
NR_033413.2:n.806T>G
NR_033414.2:n.579T>G