Canonical Allele Identifier: CA377117091

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1453210335
• gnomAD v2: 10-73122168-T-C
• gnomAD v4: 10-71362411-T-C
• MyVariant Identifiers: chr10:g.73122168T>C (hg19) ; chr10:g.71362411T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362411T>C , CM000672.2:g.71362411T>C	GRCh38
NC_000010.10:g.73122168T>C , CM000672.1:g.73122168T>C	GRCh37
NC_000010.9:g.72792174T>C	NCBI36
NG_017066.1:g.48159T>C
NG_017066.2:g.48153T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2707T>C
ENST00000373189.6:c.1231T>C MANE Select	ENSP00000362285.5:p.Ser411Pro
ENST00000479577.2:c.997T>C	ENSP00000493995.1:p.Ser333Pro
ENST00000642198.1:c.*803T>C	ENSP00000494827.1:n.*803T>C
ENST00000642772.1:c.*94+6168T>C	ENSP00000495041.1:n.*94+6168T>C
ENST00000643042.1:c.852T>C	ENSP00000496674.1:n.852T>C
ENST00000643619.1:c.*814T>C	ENSP00000494378.1:n.*814T>C
ENST00000643752.1:c.*557T>C	ENSP00000495000.1:n.*557T>C
ENST00000644088.1:c.*552T>C	ENSP00000494066.1:n.*552T>C
ENST00000644591.1:c.*557T>C	ENSP00000496664.1:n.*557T>C
ENST00000644895.1:c.*99+6168T>C	ENSP00000493872.1:n.*99+6168T>C
ENST00000645345.1:c.*803T>C	ENSP00000495859.1:n.*803T>C
ENST00000647524.1:c.*814T>C	ENSP00000495077.1:n.*814T>C
ENST00000373189.5:c.1231T>C	ENSP00000362285.5:p.Ser411Pro
ENST00000469204.1:n.728T>C
NM_001174098.1:c.*460T>C	NP_001167569.1:n.*460T>C
NM_018344.5:c.1231T>C	NP_060814.4:p.Ser411Pro
NR_033413.1:n.1205T>C
NR_033414.1:n.978T>C
XM_006717910.2:c.997T>C	XP_006717973.1:p.Ser333Pro
NM_001363518.1:c.997T>C	NP_001350447.1:p.Ser333Pro
XM_017016377.2:c.793T>C	XP_016871866.1:p.Ser265Pro
XM_017016378.2:c.613T>C	XP_016871867.1:p.Ser205Pro
NM_018344.6:c.1231T>C MANE Select	NP_060814.4:p.Ser411Pro
NM_001174098.2:c.*460T>C	NP_001167569.1:n.*460T>C
NM_001363518.2:c.997T>C	NP_001350447.1:p.Ser333Pro
NR_033413.2:n.1199T>C
NR_033414.2:n.972T>C