Canonical Allele Identifier: CA377114556

Gene: SLC29A3

Linked Data

• gnomAD v4: 10-71362079-C-A
• MyVariant Identifiers: chr10:g.73121836C>A (hg19) ; chr10:g.71362079C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362079C>A , CM000672.2:g.71362079C>A	GRCh38
NC_000010.10:g.73121836C>A , CM000672.1:g.73121836C>A	GRCh37
NC_000010.9:g.72791842C>A	NCBI36
NG_017066.1:g.47827C>A
NG_017066.2:g.47821C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2375C>A
ENST00000373189.6:c.899C>A MANE Select	ENSP00000362285.5:p.Pro300His
ENST00000479577.2:c.665C>A	ENSP00000493995.1:p.Pro222His
ENST00000642198.1:c.*471C>A	ENSP00000494827.1:n.*471C>A
ENST00000642772.1:c.*94+5836C>A	ENSP00000495041.1:n.*94+5836C>A
ENST00000643042.1:c.520C>A	ENSP00000496674.1:n.520C>A
ENST00000643619.1:c.*482C>A	ENSP00000494378.1:n.*482C>A
ENST00000643752.1:c.*225C>A	ENSP00000495000.1:n.*225C>A
ENST00000644088.1:c.*220C>A	ENSP00000494066.1:n.*220C>A
ENST00000644591.1:c.*225C>A	ENSP00000496664.1:n.*225C>A
ENST00000644895.1:c.*99+5836C>A	ENSP00000493872.1:n.*99+5836C>A
ENST00000645345.1:c.*471C>A	ENSP00000495859.1:n.*471C>A
ENST00000647524.1:c.*482C>A	ENSP00000495077.1:n.*482C>A
ENST00000373189.5:c.899C>A	ENSP00000362285.5:p.Pro300His
ENST00000469204.1:n.396C>A
NM_001174098.1:c.*128C>A	NP_001167569.1:n.*128C>A
NM_018344.5:c.899C>A	NP_060814.4:p.Pro300His
NR_033413.1:n.873C>A
NR_033414.1:n.646C>A
XM_006717910.2:c.665C>A	XP_006717973.1:p.Pro222His
NM_001363518.1:c.665C>A	NP_001350447.1:p.Pro222His
XM_017016377.2:c.461C>A	XP_016871866.1:p.Pro154His
XM_017016378.2:c.281C>A	XP_016871867.1:p.Pro94His
NM_018344.6:c.899C>A MANE Select	NP_060814.4:p.Pro300His
NM_001174098.2:c.*128C>A	NP_001167569.1:n.*128C>A
NM_001363518.2:c.665C>A	NP_001350447.1:p.Pro222His
NR_033413.2:n.867C>A
NR_033414.2:n.640C>A