Canonical Allele Identifier: CA1918678522

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362470C= , CM000672.2:g.71362470C=	GRCh38
NC_000010.10:g.73122227C= , CM000672.1:g.73122227C=	GRCh37
NC_000010.9:g.72792233C=	NCBI36
NG_017066.1:g.48218C=
NG_017066.2:g.48212C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2766C=
ENST00000373189.6:c.1290C= MANE Select	ENSP00000362285.5:p.Ser430=
ENST00000479577.2:c.1056C=	ENSP00000493995.1:p.Ser352=
ENST00000642198.1:c.*862C=	ENSP00000494827.1:n.*862C=
ENST00000642772.1:c.*94+6227C=	ENSP00000495041.1:n.*94+6227C=
ENST00000643042.1:c.911C=	ENSP00000496674.1:n.911C=
ENST00000643619.1:c.*873C=	ENSP00000494378.1:n.*873C=
ENST00000643752.1:c.*616C=	ENSP00000495000.1:n.*616C=
ENST00000644088.1:c.*611C=	ENSP00000494066.1:n.*611C=
ENST00000644591.1:c.*616C=	ENSP00000496664.1:n.*616C=
ENST00000644895.1:c.*99+6227C=	ENSP00000493872.1:n.*99+6227C=
ENST00000645345.1:c.*862C=	ENSP00000495859.1:n.*862C=
ENST00000647524.1:c.*873C=	ENSP00000495077.1:n.*873C=
ENST00000373189.5:c.1290C=	ENSP00000362285.5:p.Ser430=
ENST00000469204.1:n.787C=
NM_001174098.1:c.*519C=	NP_001167569.1:n.*519C=
NM_018344.5:c.1290C=	NP_060814.4:p.Ser430=
NR_033413.1:n.1264C=
NR_033414.1:n.1037C=
XM_006717910.2:c.1056C=	XP_006717973.1:p.Ser352=
NM_001363518.1:c.1056C=	NP_001350447.1:p.Ser352=
XM_017016377.2:c.852C=	XP_016871866.1:p.Ser284=
XM_017016378.2:c.672C=	XP_016871867.1:p.Ser224=
NM_018344.6:c.1290C= MANE Select	NP_060814.4:p.Ser430=
NM_001174098.2:c.*519C=	NP_001167569.1:n.*519C=
NM_001363518.2:c.1056C=	NP_001350447.1:p.Ser352=
NR_033413.2:n.1258C=
NR_033414.2:n.1031C=