Canonical Allele Identifier: CA512978425

Gene: SLC25A1

Linked Data

• dbSNP Id: rs782641232
• gnomAD v2: 22-19163727-G-C
• MyVariant Identifiers: chr22:g.19163727G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176214G>C , CM000684.2:g.19176214G>C	GRCh38
NC_000022.10:g.19163727G>C , CM000684.1:g.19163727G>C	GRCh37
NC_000022.9:g.17543727G>C	NCBI36
NG_033863.1:g.7650C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.852C>G MANE Select	ENSP00000215882.5:p.Gly284=
ENST00000215882.9:c.852C>G	ENSP00000215882.5:p.Gly284=
ENST00000451283.5:c.543C>G	ENSP00000401480.1:p.Gly181=
ENST00000470922.5:n.994C>G
NM_001256534.1:c.873C>G	NP_001243463.1:p.Gly291=
NM_001287387.1:c.543C>G	NP_001274316.1:p.Gly181=
NM_005984.4:c.852C>G	NP_005975.1:p.Gly284=
NR_046298.2:n.903C>G
NM_005984.5:c.852C>G MANE Select	NP_005975.1:p.Gly284=
NM_001256534.2:c.873C>G	NP_001243463.1:p.Gly291=
NM_001287387.2:c.543C>G	NP_001274316.1:p.Gly181=
NR_046298.3:n.776C>G