Canonical Allele Identifier: CA513188432

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176677-C-T
• MyVariant Identifiers: chr22:g.19164190C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176677C>T , CM000684.2:g.19176677C>T	GRCh38
NC_000022.10:g.19164190C>T , CM000684.1:g.19164190C>T	GRCh37
NC_000022.9:g.17544190C>T	NCBI36
NG_033863.1:g.7187G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.648G>A MANE Select	ENSP00000215882.5:p.Lys216=
ENST00000215882.9:c.648G>A	ENSP00000215882.5:p.Lys216=
ENST00000451283.5:c.339G>A	ENSP00000401480.1:p.Lys113=
ENST00000461267.1:n.794G>A
ENST00000470922.5:n.790G>A
NM_001256534.1:c.669G>A	NP_001243463.1:p.Lys223=
NM_001287387.1:c.339G>A	NP_001274316.1:p.Lys113=
NM_005984.4:c.648G>A	NP_005975.1:p.Lys216=
NR_046298.2:n.699G>A
NM_005984.5:c.648G>A MANE Select	NP_005975.1:p.Lys216=
NM_001256534.2:c.669G>A	NP_001243463.1:p.Lys223=
NM_001287387.2:c.339G>A	NP_001274316.1:p.Lys113=
NR_046298.3:n.572G>A