Canonical Allele Identifier: CA410637337

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176921-C-G
• MyVariant Identifiers: chr22:g.19164434C>G (hg19) ; chr22:g.19176921C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176921C>G , CM000684.2:g.19176921C>G	GRCh38
NC_000022.10:g.19164434C>G , CM000684.1:g.19164434C>G	GRCh37
NC_000022.9:g.17544434C>G	NCBI36
NG_033863.1:g.6943G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.556G>C MANE Select	ENSP00000215882.5:p.Ala186Pro
ENST00000215882.9:c.556G>C	ENSP00000215882.5:p.Ala186Pro
ENST00000451283.5:c.247G>C	ENSP00000401480.1:p.Ala83Pro
ENST00000461267.1:n.702G>C
ENST00000470922.5:n.698G>C
NM_001256534.1:c.577G>C	NP_001243463.1:p.Ala193Pro
NM_001287387.1:c.247G>C	NP_001274316.1:p.Ala83Pro
NM_005984.4:c.556G>C	NP_005975.1:p.Ala186Pro
NR_046298.2:n.607G>C
NM_005984.5:c.556G>C MANE Select	NP_005975.1:p.Ala186Pro
NM_001256534.2:c.577G>C	NP_001243463.1:p.Ala193Pro
NM_001287387.2:c.247G>C	NP_001274316.1:p.Ala83Pro
NR_046298.3:n.480G>C