Canonical Allele Identifier: CA377114123

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73121775T>C (hg19) ; chr10:g.71362018T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362018T>C , CM000672.2:g.71362018T>C	GRCh38
NC_000010.10:g.73121775T>C , CM000672.1:g.73121775T>C	GRCh37
NC_000010.9:g.72791781T>C	NCBI36
NG_017066.1:g.47766T>C
NG_017066.2:g.47760T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2314T>C
ENST00000373189.6:c.838T>C MANE Select	ENSP00000362285.5:p.Ser280Pro
ENST00000479577.2:c.604T>C	ENSP00000493995.1:p.Ser202Pro
ENST00000642198.1:c.*410T>C	ENSP00000494827.1:n.*410T>C
ENST00000642772.1:c.*94+5775T>C	ENSP00000495041.1:n.*94+5775T>C
ENST00000643042.1:c.459T>C	ENSP00000496674.1:n.459T>C
ENST00000643619.1:c.*421T>C	ENSP00000494378.1:n.*421T>C
ENST00000643752.1:c.*164T>C	ENSP00000495000.1:n.*164T>C
ENST00000644088.1:c.*159T>C	ENSP00000494066.1:n.*159T>C
ENST00000644591.1:c.*164T>C	ENSP00000496664.1:n.*164T>C
ENST00000644895.1:c.*99+5775T>C	ENSP00000493872.1:n.*99+5775T>C
ENST00000645345.1:c.*410T>C	ENSP00000495859.1:n.*410T>C
ENST00000647524.1:c.*421T>C	ENSP00000495077.1:n.*421T>C
ENST00000373189.5:c.838T>C	ENSP00000362285.5:p.Ser280Pro
ENST00000469204.1:n.335T>C
NM_001174098.1:c.*67T>C	NP_001167569.1:n.*67T>C
NM_018344.5:c.838T>C	NP_060814.4:p.Ser280Pro
NR_033413.1:n.812T>C
NR_033414.1:n.585T>C
XM_006717910.2:c.604T>C	XP_006717973.1:p.Ser202Pro
NM_001363518.1:c.604T>C	NP_001350447.1:p.Ser202Pro
XM_017016377.2:c.400T>C	XP_016871866.1:p.Ser134Pro
XM_017016378.2:c.220T>C	XP_016871867.1:p.Ser74Pro
NM_018344.6:c.838T>C MANE Select	NP_060814.4:p.Ser280Pro
NM_001174098.2:c.*67T>C	NP_001167569.1:n.*67T>C
NM_001363518.2:c.604T>C	NP_001350447.1:p.Ser202Pro
NR_033413.2:n.806T>C
NR_033414.2:n.579T>C