Canonical Allele Identifier: CA512979029

Gene: SLC25A1

Linked Data

• dbSNP Id: rs1555922324
• gnomAD v2: 22-19164002-C-A
• gnomAD v3: 22-19176489-C-A
• gnomAD v4: 22-19176489-C-A
• MyVariant Identifiers: chr22:g.19164002C>A (hg19) ; chr22:g.19176489C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176489C>A , CM000684.2:g.19176489C>A	GRCh38
NC_000022.10:g.19164002C>A , CM000684.1:g.19164002C>A	GRCh37
NC_000022.9:g.17544002C>A	NCBI36
NG_033863.1:g.7375G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.753G>T MANE Select	ENSP00000215882.5:p.Leu251=
ENST00000215882.9:c.753G>T	ENSP00000215882.5:p.Leu251=
ENST00000451283.5:c.444G>T	ENSP00000401480.1:p.Leu148=
ENST00000470922.5:n.895G>T
NM_001256534.1:c.774G>T	NP_001243463.1:p.Leu258=
NM_001287387.1:c.444G>T	NP_001274316.1:p.Leu148=
NM_005984.4:c.753G>T	NP_005975.1:p.Leu251=
NR_046298.2:n.804G>T
NM_005984.5:c.753G>T MANE Select	NP_005975.1:p.Leu251=
NM_001256534.2:c.774G>T	NP_001243463.1:p.Leu258=
NM_001287387.2:c.444G>T	NP_001274316.1:p.Leu148=
NR_046298.3:n.677G>T