Canonical Allele Identifier: CA410634505

Gene: SLC25A1

Linked Data

• ClinVar Variation Id: 2620613
• ClinVar RCV Id: RCV003383528
• MyVariant Identifiers: chr22:g.19163969G>C (hg19) ; chr22:g.19176456G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176456G>C , CM000684.2:g.19176456G>C	GRCh38
NC_000022.10:g.19163969G>C , CM000684.1:g.19163969G>C	GRCh37
NC_000022.9:g.17543969G>C	NCBI36
NG_033863.1:g.7408C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.786C>G MANE Select	ENSP00000215882.5:p.Cys262Trp
ENST00000215882.9:c.786C>G	ENSP00000215882.5:p.Cys262Trp
ENST00000451283.5:c.477C>G	ENSP00000401480.1:p.Cys159Trp
ENST00000470922.5:n.928C>G
NM_001256534.1:c.807C>G	NP_001243463.1:p.Cys269Trp
NM_001287387.1:c.477C>G	NP_001274316.1:p.Cys159Trp
NM_005984.4:c.786C>G	NP_005975.1:p.Cys262Trp
NR_046298.2:n.837C>G
NM_005984.5:c.786C>G MANE Select	NP_005975.1:p.Cys262Trp
NM_001256534.2:c.807C>G	NP_001243463.1:p.Cys269Trp
NM_001287387.2:c.477C>G	NP_001274316.1:p.Cys159Trp
NR_046298.3:n.710C>G