Canonical Allele Identifier: CA513188395

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176644-T-C
• COSMIC: COSM1616231
• MyVariant Identifiers: chr22:g.19164157T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176644T>C , CM000684.2:g.19176644T>C	GRCh38
NC_000022.10:g.19164157T>C , CM000684.1:g.19164157T>C	GRCh37
NC_000022.9:g.17544157T>C	NCBI36
NG_033863.1:g.7220A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.681A>G MANE Select	ENSP00000215882.5:p.Gly227=
ENST00000215882.9:c.681A>G	ENSP00000215882.5:p.Gly227=
ENST00000451283.5:c.372A>G	ENSP00000401480.1:p.Gly124=
ENST00000470922.5:n.823A>G
NM_001256534.1:c.702A>G	NP_001243463.1:p.Gly234=
NM_001287387.1:c.372A>G	NP_001274316.1:p.Gly124=
NM_005984.4:c.681A>G	NP_005975.1:p.Gly227=
NR_046298.2:n.732A>G
NM_005984.5:c.681A>G MANE Select	NP_005975.1:p.Gly227=
NM_001256534.2:c.702A>G	NP_001243463.1:p.Gly234=
NM_001287387.2:c.372A>G	NP_001274316.1:p.Gly124=
NR_046298.3:n.605A>G