Canonical Allele Identifier: CA410633280

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176135-C-G
• MyVariant Identifiers: chr22:g.19163648C>G (hg19) ; chr22:g.19176135C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176135C>G , CM000684.2:g.19176135C>G	GRCh38
NC_000022.10:g.19163648C>G , CM000684.1:g.19163648C>G	GRCh37
NC_000022.9:g.17543648C>G	NCBI36
NG_033863.1:g.7729G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.931G>C MANE Select	ENSP00000215882.5:p.Asp311His
ENST00000215882.9:c.931G>C	ENSP00000215882.5:p.Asp311His
ENST00000451283.5:c.622G>C	ENSP00000401480.1:p.Asp208His
ENST00000470922.5:n.1073G>C
NM_001256534.1:c.952G>C	NP_001243463.1:p.Asp318His
NM_001287387.1:c.622G>C	NP_001274316.1:p.Asp208His
NM_005984.4:c.931G>C	NP_005975.1:p.Asp311His
NR_046298.2:n.982G>C
NM_005984.5:c.931G>C MANE Select	NP_005975.1:p.Asp311His
NM_001256534.2:c.952G>C	NP_001243463.1:p.Asp318His
NM_001287387.2:c.622G>C	NP_001274316.1:p.Asp208His
NR_046298.3:n.855G>C