Canonical Allele Identifier: CA512978541

Gene: SLC25A1

Linked Data

• dbSNP Id: rs1555922228
• gnomAD v2: 22-19163751-G-A
• gnomAD v3: 22-19176238-G-A
• gnomAD v4: 22-19176238-G-A
• COSMIC: COSM2892074
• MyVariant Identifiers: chr22:g.19163751G>A (hg19) ; chr22:g.19176238G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176238G>A , CM000684.2:g.19176238G>A	GRCh38
NC_000022.10:g.19163751G>A , CM000684.1:g.19163751G>A	GRCh37
NC_000022.9:g.17543751G>A	NCBI36
NG_033863.1:g.7626C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.828C>T MANE Select	ENSP00000215882.5:p.Tyr276=
ENST00000215882.9:c.828C>T	ENSP00000215882.5:p.Tyr276=
ENST00000451283.5:c.519C>T	ENSP00000401480.1:p.Tyr173=
ENST00000470922.5:n.970C>T
NM_001256534.1:c.849C>T	NP_001243463.1:p.Tyr283=
NM_001287387.1:c.519C>T	NP_001274316.1:p.Tyr173=
NM_005984.4:c.828C>T	NP_005975.1:p.Tyr276=
NR_046298.2:n.879C>T
NM_005984.5:c.828C>T MANE Select	NP_005975.1:p.Tyr276=
NM_001256534.2:c.849C>T	NP_001243463.1:p.Tyr283=
NM_001287387.2:c.519C>T	NP_001274316.1:p.Tyr173=
NR_046298.3:n.752C>T