Canonical Allele Identifier: CA377116996

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122123T>C (hg19) ; chr10:g.71362366T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362366T>C , CM000672.2:g.71362366T>C	GRCh38
NC_000010.10:g.73122123T>C , CM000672.1:g.73122123T>C	GRCh37
NC_000010.9:g.72792129T>C	NCBI36
NG_017066.1:g.48114T>C
NG_017066.2:g.48108T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2662T>C
ENST00000373189.6:c.1186T>C MANE Select	ENSP00000362285.5:p.Cys396Arg
ENST00000479577.2:c.952T>C	ENSP00000493995.1:p.Cys318Arg
ENST00000642198.1:c.*758T>C	ENSP00000494827.1:n.*758T>C
ENST00000642772.1:c.*94+6123T>C	ENSP00000495041.1:n.*94+6123T>C
ENST00000643042.1:c.807T>C	ENSP00000496674.1:n.807T>C
ENST00000643619.1:c.*769T>C	ENSP00000494378.1:n.*769T>C
ENST00000643752.1:c.*512T>C	ENSP00000495000.1:n.*512T>C
ENST00000644088.1:c.*507T>C	ENSP00000494066.1:n.*507T>C
ENST00000644591.1:c.*512T>C	ENSP00000496664.1:n.*512T>C
ENST00000644895.1:c.*99+6123T>C	ENSP00000493872.1:n.*99+6123T>C
ENST00000645345.1:c.*758T>C	ENSP00000495859.1:n.*758T>C
ENST00000647524.1:c.*769T>C	ENSP00000495077.1:n.*769T>C
ENST00000373189.5:c.1186T>C	ENSP00000362285.5:p.Cys396Arg
ENST00000469204.1:n.683T>C
NM_001174098.1:c.*415T>C	NP_001167569.1:n.*415T>C
NM_018344.5:c.1186T>C	NP_060814.4:p.Cys396Arg
NR_033413.1:n.1160T>C
NR_033414.1:n.933T>C
XM_006717910.2:c.952T>C	XP_006717973.1:p.Cys318Arg
NM_001363518.1:c.952T>C	NP_001350447.1:p.Cys318Arg
XM_017016377.2:c.748T>C	XP_016871866.1:p.Cys250Arg
XM_017016378.2:c.568T>C	XP_016871867.1:p.Cys190Arg
NM_018344.6:c.1186T>C MANE Select	NP_060814.4:p.Cys396Arg
NM_001174098.2:c.*415T>C	NP_001167569.1:n.*415T>C
NM_001363518.2:c.952T>C	NP_001350447.1:p.Cys318Arg
NR_033413.2:n.1154T>C
NR_033414.2:n.927T>C