Canonical Allele Identifier: CA377110030
Community Standard Title: NM_018344.6(SLC29A3):c.610+1G>A
Gene: SLC29A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71351789G>A , CM000672.2:g.71351789G>A GRCh38
NC_000010.10:g.73111546G>A , CM000672.1:g.73111546G>A GRCh37
NC_000010.9:g.72781552G>A NCBI36
NG_017066.1:g.37537G>A
NG_017066.2:g.37531G>A

Transcript Alleles

HGVS Amino-acid Change
NM_018344.6:c.610+1G>A MANE Select NP_060814.4:n.610+1G>A
ENST00000373189.6:c.610+1G>A MANE Select ENSP00000362285.5:n.610+1G>A
NM_001174098.1:c.610+1G>A NP_001167569.1:n.610+1G>A
NM_001174098.2:c.610+1G>A NP_001167569.1:n.610+1G>A
NM_001363518.1:c.376+1G>A NP_001350447.1:n.376+1G>A
NM_001363518.2:c.376+1G>A NP_001350447.1:n.376+1G>A
NM_018344.5:c.610+1G>A NP_060814.4:n.610+1G>A
NR_033413.1:n.584+1G>A
NR_033413.2:n.578+1G>A
NR_033414.1:n.358-4292G>A
NR_033414.2:n.352-4292G>A
ENST00000373189.5:c.610+1G>A ENSP00000362285.5:n.610+1G>A
ENST00000469204.1:n.101+1G>A
ENST00000479577.2:c.376+1G>A ENSP00000493995.1:n.376+1G>A
ENST00000642198.1:c.293+1G>A ENSP00000494827.1:n.293+1G>A
ENST00000642772.1:c.301-4292G>A ENSP00000495041.1:n.301-4292G>A
ENST00000643042.1:c.232-4292G>A ENSP00000496674.1:n.232-4292G>A
ENST00000643619.1:c.376+1G>A ENSP00000494378.1:n.376+1G>A
ENST00000643752.1:c.384-4292G>A ENSP00000495000.1:n.384-4292G>A
ENST00000644088.1:c.301-4292G>A ENSP00000494066.1:n.301-4292G>A
ENST00000644591.1:c.527+1G>A ENSP00000496664.1:n.527+1G>A
ENST00000644895.1:c.527+1G>A ENSP00000493872.1:n.527+1G>A
ENST00000645345.1:c.527+1G>A ENSP00000495859.1:n.527+1G>A
ENST00000647524.1:c.610+1G>A ENSP00000495077.1:n.610+1G>A
ENST00000697843.1:n.1057G>A
XM_006717910.2:c.376+1G>A XP_006717973.1:n.376+1G>A
XM_017016377.2:c.172+1G>A XP_016871866.1:n.172+1G>A
XM_017016378.2:c.-8-4292G>A XP_016871867.1:n.-8-4292G>A