Canonical Allele Identifier: CA377117067

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122157T>C (hg19) ; chr10:g.71362400T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362400T>C , CM000672.2:g.71362400T>C	GRCh38
NC_000010.10:g.73122157T>C , CM000672.1:g.73122157T>C	GRCh37
NC_000010.9:g.72792163T>C	NCBI36
NG_017066.1:g.48148T>C
NG_017066.2:g.48142T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697843.1:n.2696T>C
ENST00000373189.6:c.1220T>C MANE Select	ENSP00000362285.5:p.Val407Ala
ENST00000479577.2:c.986T>C	ENSP00000493995.1:p.Val329Ala
ENST00000642198.1:c.*792T>C	ENSP00000494827.1:n.*792T>C
ENST00000642772.1:c.*94+6157T>C	ENSP00000495041.1:n.*94+6157T>C
ENST00000643042.1:c.841T>C	ENSP00000496674.1:n.841T>C
ENST00000643619.1:c.*803T>C	ENSP00000494378.1:n.*803T>C
ENST00000643752.1:c.*546T>C	ENSP00000495000.1:n.*546T>C
ENST00000644088.1:c.*541T>C	ENSP00000494066.1:n.*541T>C
ENST00000644591.1:c.*546T>C	ENSP00000496664.1:n.*546T>C
ENST00000644895.1:c.*99+6157T>C	ENSP00000493872.1:n.*99+6157T>C
ENST00000645345.1:c.*792T>C	ENSP00000495859.1:n.*792T>C
ENST00000647524.1:c.*803T>C	ENSP00000495077.1:n.*803T>C
ENST00000373189.5:c.1220T>C	ENSP00000362285.5:p.Val407Ala
ENST00000469204.1:n.717T>C
NM_001174098.1:c.*449T>C	NP_001167569.1:n.*449T>C
NM_018344.5:c.1220T>C	NP_060814.4:p.Val407Ala
NR_033413.1:n.1194T>C
NR_033414.1:n.967T>C
XM_006717910.2:c.986T>C	XP_006717973.1:p.Val329Ala
NM_001363518.1:c.986T>C	NP_001350447.1:p.Val329Ala
XM_017016377.2:c.782T>C	XP_016871866.1:p.Val261Ala
XM_017016378.2:c.602T>C	XP_016871867.1:p.Val201Ala
NM_018344.6:c.1220T>C MANE Select	NP_060814.4:p.Val407Ala
NM_001174098.2:c.*449T>C	NP_001167569.1:n.*449T>C
NM_001363518.2:c.986T>C	NP_001350447.1:p.Val329Ala
NR_033413.2:n.1188T>C
NR_033414.2:n.961T>C