Canonical Allele Identifier: CA512979041

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176492-G-A
• MyVariant Identifiers: chr22:g.19164005G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176492G>A , CM000684.2:g.19176492G>A	GRCh38
NC_000022.10:g.19164005G>A , CM000684.1:g.19164005G>A	GRCh37
NC_000022.9:g.17544005G>A	NCBI36
NG_033863.1:g.7372C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.750C>T MANE Select	ENSP00000215882.5:p.Gly250=
ENST00000215882.9:c.750C>T	ENSP00000215882.5:p.Gly250=
ENST00000451283.5:c.441C>T	ENSP00000401480.1:p.Gly147=
ENST00000470922.5:n.892C>T
NM_001256534.1:c.771C>T	NP_001243463.1:p.Gly257=
NM_001287387.1:c.441C>T	NP_001274316.1:p.Gly147=
NM_005984.4:c.750C>T	NP_005975.1:p.Gly250=
NR_046298.2:n.801C>T
NM_005984.5:c.750C>T MANE Select	NP_005975.1:p.Gly250=
NM_001256534.2:c.771C>T	NP_001243463.1:p.Gly257=
NM_001287387.2:c.441C>T	NP_001274316.1:p.Gly147=
NR_046298.3:n.674C>T