Canonical Allele Identifier: CA513188132

Gene: SLC25A1

Linked Data

• dbSNP Id: rs781886334
• MyVariant Identifiers: chr22:g.19164453C>T (hg19) ; chr22:g.19176940C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176940C>T , CM000684.2:g.19176940C>T	GRCh38
NC_000022.10:g.19164453C>T , CM000684.1:g.19164453C>T	GRCh37
NC_000022.9:g.17544453C>T	NCBI36
NG_033863.1:g.6924G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.537G>A MANE Select	ENSP00000215882.5:p.Gly179=
ENST00000215882.9:c.537G>A	ENSP00000215882.5:p.Gly179=
ENST00000451283.5:c.228G>A	ENSP00000401480.1:p.Gly76=
ENST00000461267.1:n.683G>A
ENST00000470922.5:n.679G>A
NM_001256534.1:c.558G>A	NP_001243463.1:p.Gly186=
NM_001287387.1:c.228G>A	NP_001274316.1:p.Gly76=
NM_005984.4:c.537G>A	NP_005975.1:p.Gly179=
NR_046298.2:n.588G>A
NM_005984.5:c.537G>A MANE Select	NP_005975.1:p.Gly179=
NM_001256534.2:c.558G>A	NP_001243463.1:p.Gly186=
NM_001287387.2:c.228G>A	NP_001274316.1:p.Gly76=
NR_046298.3:n.461G>A