Canonical Allele Identifier: CA470281717
Gene: SLC29A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.73122326G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362569G>T , CM000672.2:g.71362569G>T GRCh38
NC_000010.10:g.73122326G>T , CM000672.1:g.73122326G>T GRCh37
NC_000010.9:g.72792332G>T NCBI36
NG_017066.1:g.48317G>T
NG_017066.2:g.48311G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2865G>T
ENST00000373189.6:c.1389G>T MANE Select ENSP00000362285.5:p.Leu463=
ENST00000479577.2:c.1155G>T ENSP00000493995.1:p.Leu385=
ENST00000642198.1:c.*961G>T ENSP00000494827.1:n.*961G>T
ENST00000642772.1:c.*94+6326G>T ENSP00000495041.1:n.*94+6326G>T
ENST00000643042.1:c.1010G>T ENSP00000496674.1:n.1010G>T
ENST00000643619.1:c.*972G>T ENSP00000494378.1:n.*972G>T
ENST00000643752.1:c.*715G>T ENSP00000495000.1:n.*715G>T
ENST00000644088.1:c.*710G>T ENSP00000494066.1:n.*710G>T
ENST00000644591.1:c.*715G>T ENSP00000496664.1:n.*715G>T
ENST00000644895.1:c.*99+6326G>T ENSP00000493872.1:n.*99+6326G>T
ENST00000645345.1:c.*961G>T ENSP00000495859.1:n.*961G>T
ENST00000647524.1:c.*972G>T ENSP00000495077.1:n.*972G>T
ENST00000373189.5:c.1389G>T ENSP00000362285.5:p.Leu463=
NM_001174098.1:c.*618G>T NP_001167569.1:n.*618G>T
NM_018344.5:c.1389G>T NP_060814.4:p.Leu463=
NR_033413.1:n.1363G>T
NR_033414.1:n.1136G>T
XM_006717910.2:c.1155G>T XP_006717973.1:p.Leu385=
NM_001363518.1:c.1155G>T NP_001350447.1:p.Leu385=
XM_017016377.2:c.951G>T XP_016871866.1:p.Leu317=
XM_017016378.2:c.771G>T XP_016871867.1:p.Leu257=
NM_018344.6:c.1389G>T MANE Select NP_060814.4:p.Leu463=
NM_001174098.2:c.*618G>T NP_001167569.1:n.*618G>T
NM_001363518.2:c.1155G>T NP_001350447.1:p.Leu385=
NR_033413.2:n.1357G>T
NR_033414.2:n.1130G>T