Canonical Allele Identifier: CA513188447

Gene: SLC25A1

Linked Data

• dbSNP Id: rs1367506990
• gnomAD v3: 22-19176692-C-G
• gnomAD v4: 22-19176692-C-G
• MyVariant Identifiers: chr22:g.19164205C>G (hg19) ; chr22:g.19176692C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176692C>G , CM000684.2:g.19176692C>G	GRCh38
NC_000022.10:g.19164205C>G , CM000684.1:g.19164205C>G	GRCh37
NC_000022.9:g.17544205C>G	NCBI36
NG_033863.1:g.7172G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.633G>C MANE Select	ENSP00000215882.5:p.Gly211=
ENST00000215882.9:c.633G>C	ENSP00000215882.5:p.Gly211=
ENST00000451283.5:c.324G>C	ENSP00000401480.1:p.Gly108=
ENST00000461267.1:n.779G>C
ENST00000470922.5:n.775G>C
NM_001256534.1:c.654G>C	NP_001243463.1:p.Gly218=
NM_001287387.1:c.324G>C	NP_001274316.1:p.Gly108=
NM_005984.4:c.633G>C	NP_005975.1:p.Gly211=
NR_046298.2:n.684G>C
NM_005984.5:c.633G>C MANE Select	NP_005975.1:p.Gly211=
NM_001256534.2:c.654G>C	NP_001243463.1:p.Gly218=
NM_001287387.2:c.324G>C	NP_001274316.1:p.Gly108=
NR_046298.3:n.557G>C