Canonical Allele Identifier: CA377116650

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122047G>C (hg19) ; chr10:g.71362290G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362290G>C , CM000672.2:g.71362290G>C	GRCh38
NC_000010.10:g.73122047G>C , CM000672.1:g.73122047G>C	GRCh37
NC_000010.9:g.72792053G>C	NCBI36
NG_017066.1:g.48038G>C
NG_017066.2:g.48032G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2586G>C
ENST00000373189.6:c.1110G>C MANE Select	ENSP00000362285.5:p.Gln370His
ENST00000479577.2:c.876G>C	ENSP00000493995.1:p.Gln292His
ENST00000642198.1:c.*682G>C	ENSP00000494827.1:n.*682G>C
ENST00000642772.1:c.*94+6047G>C	ENSP00000495041.1:n.*94+6047G>C
ENST00000643042.1:c.731G>C	ENSP00000496674.1:n.731G>C
ENST00000643619.1:c.*693G>C	ENSP00000494378.1:n.*693G>C
ENST00000643752.1:c.*436G>C	ENSP00000495000.1:n.*436G>C
ENST00000644088.1:c.*431G>C	ENSP00000494066.1:n.*431G>C
ENST00000644591.1:c.*436G>C	ENSP00000496664.1:n.*436G>C
ENST00000644895.1:c.*99+6047G>C	ENSP00000493872.1:n.*99+6047G>C
ENST00000645345.1:c.*682G>C	ENSP00000495859.1:n.*682G>C
ENST00000647524.1:c.*693G>C	ENSP00000495077.1:n.*693G>C
ENST00000373189.5:c.1110G>C	ENSP00000362285.5:p.Gln370His
ENST00000469204.1:n.607G>C
NM_001174098.1:c.*339G>C	NP_001167569.1:n.*339G>C
NM_018344.5:c.1110G>C	NP_060814.4:p.Gln370His
NR_033413.1:n.1084G>C
NR_033414.1:n.857G>C
XM_006717910.2:c.876G>C	XP_006717973.1:p.Gln292His
NM_001363518.1:c.876G>C	NP_001350447.1:p.Gln292His
XM_017016377.2:c.672G>C	XP_016871866.1:p.Gln224His
XM_017016378.2:c.492G>C	XP_016871867.1:p.Gln164His
NM_018344.6:c.1110G>C MANE Select	NP_060814.4:p.Gln370His
NM_001174098.2:c.*339G>C	NP_001167569.1:n.*339G>C
NM_001363518.2:c.876G>C	NP_001350447.1:p.Gln292His
NR_033413.2:n.1078G>C
NR_033414.2:n.851G>C