Canonical Allele Identifier: CA638503391

Gene: SLC25A1

Linked Data

• dbSNP Id: rs782181399
• gnomAD v2: 22-19164467-C-A
• gnomAD v4: 22-19176954-C-A
• MyVariant Identifiers: chr22:g.19164467C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176954C>A , CM000684.2:g.19176954C>A	GRCh38
NC_000022.10:g.19164467C>A , CM000684.1:g.19164467C>A	GRCh37
NC_000022.9:g.17544467C>A	NCBI36
NG_033863.1:g.6910G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.527-4G>T MANE Select	ENSP00000215882.5:n.527-4G>T
ENST00000215882.9:c.527-4G>T	ENSP00000215882.5:n.527-4G>T
ENST00000451283.5:c.218-4G>T	ENSP00000401480.1:n.218-4G>T
ENST00000461267.1:n.673-4G>T
ENST00000470922.5:n.669-4G>T
NM_001256534.1:c.548-4G>T	NP_001243463.1:n.548-4G>T
NM_001287387.1:c.218-4G>T	NP_001274316.1:n.218-4G>T
NM_005984.4:c.527-4G>T	NP_005975.1:n.527-4G>T
NR_046298.2:n.578-4G>T
NM_005984.5:c.527-4G>T MANE Select	NP_005975.1:n.527-4G>T
NM_001256534.2:c.548-4G>T	NP_001243463.1:n.548-4G>T
NM_001287387.2:c.218-4G>T	NP_001274316.1:n.218-4G>T
NR_046298.3:n.451-4G>T