Canonical Allele Identifier: CA2395758826

Gene: SLC25A1

Linked Data

• dbSNP Id: rs2083987940

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177778_19177779dup , CM000684.2:g.19177778_19177779dup	GRCh38
NC_000022.10:g.19165291_19165292dup , CM000684.1:g.19165291_19165292dup	GRCh37
NC_000022.9:g.17545291_17545292dup	NCBI36
NG_033805.1:g.118940_118941dup
NG_033863.1:g.6087_6088dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000215882.10:c.391_392dup MANE Select	ENSP00000215882.5:p.Gly132LeufsTer18
ENST00000215882.9:c.391_392dup	ENSP00000215882.5:p.Gly132LeufsTer18
ENST00000451283.5:c.82_83dup	ENSP00000401480.1:p.Gly29LeufsTer18
ENST00000461267.1:n.537_538dup
ENST00000470922.5:n.533_534dup
NM_001256534.1:c.412_413dup	NP_001243463.1:p.Gly139LeufsTer18
NM_001287387.1:c.82_83dup	NP_001274316.1:p.Gly29LeufsTer18
NM_005984.4:c.391_392dup	NP_005975.1:p.Gly132LeufsTer18
NR_046298.2:n.492+165_492+166dup
NM_005984.5:c.391_392dup MANE Select	NP_005975.1:p.Gly132LeufsTer18
NM_001256534.2:c.412_413dup	NP_001243463.1:p.Gly139LeufsTer18
NM_001287387.2:c.82_83dup	NP_001274316.1:p.Gly29LeufsTer18
NR_046298.3:n.365+165_365+166dup