Canonical Allele Identifier: CA10097260

Gene: SLC25A1

Linked Data

• dbSNP Id: rs781864280
• ExAC: 22:19163788 G / A
• gnomAD v2: 22-19163788-G-A
• MyVariant Identifiers: chr22:g.19163788G>A (hg19) ; chr22:g.19176275G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176275G>A , CM000684.2:g.19176275G>A	GRCh38
NC_000022.10:g.19163788G>A , CM000684.1:g.19163788G>A	GRCh37
NC_000022.9:g.17543788G>A	NCBI36
NG_033863.1:g.7589C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.822-31C>T MANE Select	ENSP00000215882.5:n.822-31C>T
ENST00000215882.9:c.822-31C>T	ENSP00000215882.5:n.822-31C>T
ENST00000451283.5:c.513-31C>T	ENSP00000401480.1:n.513-31C>T
ENST00000470922.5:n.964-31C>T
NM_001256534.1:c.843-31C>T	NP_001243463.1:n.843-31C>T
NM_001287387.1:c.513-31C>T	NP_001274316.1:n.513-31C>T
NM_005984.4:c.822-31C>T	NP_005975.1:n.822-31C>T
NR_046298.2:n.873-31C>T
NM_005984.5:c.822-31C>T MANE Select	NP_005975.1:n.822-31C>T
NM_001256534.2:c.843-31C>T	NP_001243463.1:n.843-31C>T
NM_001287387.2:c.513-31C>T	NP_001274316.1:n.513-31C>T
NR_046298.3:n.746-31C>T