Canonical Allele Identifier: CA377117064

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122156G>T (hg19) ; chr10:g.71362399G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362399G>T , CM000672.2:g.71362399G>T	GRCh38
NC_000010.10:g.73122156G>T , CM000672.1:g.73122156G>T	GRCh37
NC_000010.9:g.72792162G>T	NCBI36
NG_017066.1:g.48147G>T
NG_017066.2:g.48141G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697843.1:n.2695G>T
ENST00000373189.6:c.1219G>T MANE Select	ENSP00000362285.5:p.Val407Leu
ENST00000479577.2:c.985G>T	ENSP00000493995.1:p.Val329Leu
ENST00000642198.1:c.*791G>T	ENSP00000494827.1:n.*791G>T
ENST00000642772.1:c.*94+6156G>T	ENSP00000495041.1:n.*94+6156G>T
ENST00000643042.1:c.840G>T	ENSP00000496674.1:n.840G>T
ENST00000643619.1:c.*802G>T	ENSP00000494378.1:n.*802G>T
ENST00000643752.1:c.*545G>T	ENSP00000495000.1:n.*545G>T
ENST00000644088.1:c.*540G>T	ENSP00000494066.1:n.*540G>T
ENST00000644591.1:c.*545G>T	ENSP00000496664.1:n.*545G>T
ENST00000644895.1:c.*99+6156G>T	ENSP00000493872.1:n.*99+6156G>T
ENST00000645345.1:c.*791G>T	ENSP00000495859.1:n.*791G>T
ENST00000647524.1:c.*802G>T	ENSP00000495077.1:n.*802G>T
ENST00000373189.5:c.1219G>T	ENSP00000362285.5:p.Val407Leu
ENST00000469204.1:n.716G>T
NM_001174098.1:c.*448G>T	NP_001167569.1:n.*448G>T
NM_018344.5:c.1219G>T	NP_060814.4:p.Val407Leu
NR_033413.1:n.1193G>T
NR_033414.1:n.966G>T
XM_006717910.2:c.985G>T	XP_006717973.1:p.Val329Leu
NM_001363518.1:c.985G>T	NP_001350447.1:p.Val329Leu
XM_017016377.2:c.781G>T	XP_016871866.1:p.Val261Leu
XM_017016378.2:c.601G>T	XP_016871867.1:p.Val201Leu
NM_018344.6:c.1219G>T MANE Select	NP_060814.4:p.Val407Leu
NM_001174098.2:c.*448G>T	NP_001167569.1:n.*448G>T
NM_001363518.2:c.985G>T	NP_001350447.1:p.Val329Leu
NR_033413.2:n.1187G>T
NR_033414.2:n.960G>T