Canonical Allele Identifier: CA410636666

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19164184C>G (hg19) ; chr22:g.19176671C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176671C>G , CM000684.2:g.19176671C>G	GRCh38
NC_000022.10:g.19164184C>G , CM000684.1:g.19164184C>G	GRCh37
NC_000022.9:g.17544184C>G	NCBI36
NG_033863.1:g.7193G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000215882.10:c.654G>C MANE Select	ENSP00000215882.5:p.Met218Ile
ENST00000215882.9:c.654G>C	ENSP00000215882.5:p.Met218Ile
ENST00000451283.5:c.345G>C	ENSP00000401480.1:p.Met115Ile
ENST00000461267.1:n.800G>C
ENST00000470922.5:n.796G>C
NM_001256534.1:c.675G>C	NP_001243463.1:p.Met225Ile
NM_001287387.1:c.345G>C	NP_001274316.1:p.Met115Ile
NM_005984.4:c.654G>C	NP_005975.1:p.Met218Ile
NR_046298.2:n.705G>C
NM_005984.5:c.654G>C MANE Select	NP_005975.1:p.Met218Ile
NM_001256534.2:c.675G>C	NP_001243463.1:p.Met225Ile
NM_001287387.2:c.345G>C	NP_001274316.1:p.Met115Ile
NR_046298.3:n.578G>C