Canonical Allele Identifier: CA2057699601

Gene: SLC25A3

Linked Data

• dbSNP Id: rs2097592351

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.98595598_98595605dup , CM000674.2:g.98595598_98595605dup	GRCh38
NC_000012.11:g.98989376_98989383dup , CM000674.1:g.98989376_98989383dup	GRCh37
NC_000012.10:g.97513507_97513514dup	NCBI36
NG_011702.1:g.6974_6981dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228318.8:c.282+41_282+48dup MANE Plus Clinical	ENSP00000228318.3:n.282+41_282+48dup
ENST00000552981.6:c.158-129_158-122dup MANE Select	ENSP00000448708.2:n.158-129_158-122dup
ENST00000188376.9:c.158-129_158-122dup	ENSP00000188376.5:n.158-129_158-122dup
ENST00000228318.7:c.282+41_282+48dup	ENSP00000228318.3:n.282+41_282+48dup
ENST00000401722.7:c.158-129_158-122dup	ENSP00000383898.3:n.158-129_158-122dup
ENST00000546766.5:n.1710_1717dup
ENST00000547534.5:c.158-129_158-122dup	ENSP00000449793.1:n.158-129_158-122dup
ENST00000548046.5:c.282+41_282+48dup	ENSP00000447339.1:n.282+41_282+48dup
ENST00000548847.1:c.158-129_158-122dup	ENSP00000449166.1:n.158-129_158-122dup
ENST00000549338.5:c.158-129_158-122dup	ENSP00000447740.1:n.158-129_158-122dup
ENST00000550695.1:c.282+41_282+48dup	ENSP00000449479.1:n.282+41_282+48dup
ENST00000551123.5:c.*8_*15dup	ENSP00000449009.1:n.*8_*15dup
ENST00000551917.5:c.282+41_282+48dup	ENSP00000447310.1:n.282+41_282+48dup
ENST00000552981.5:c.158-129_158-122dup	ENSP00000448708.1:n.158-129_158-122dup
NM_002635.3:c.158-129_158-122dup	NP_002626.1:n.158-129_158-122dup
NM_005888.3:c.282+41_282+48dup	NP_005879.1:n.282+41_282+48dup
NM_213611.2:c.158-129_158-122dup	NP_998776.1:n.158-129_158-122dup
NM_002635.4:c.158-129_158-122dup MANE Select	NP_002626.1:n.158-129_158-122dup
NM_213611.3:c.158-129_158-122dup	NP_998776.1:n.158-129_158-122dup
NM_005888.4:c.282+41_282+48dup MANE Plus Clinical	NP_005879.1:n.282+41_282+48dup