Canonical Allele Identifier: CA410634008

Gene: SLC25A1

Linked Data

• dbSNP Id: rs2146141677
• MyVariant Identifiers: chr22:g.19163740A>C (hg19) ; chr22:g.19176227A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176227A>C , CM000684.2:g.19176227A>C	GRCh38
NC_000022.10:g.19163740A>C , CM000684.1:g.19163740A>C	GRCh37
NC_000022.9:g.17543740A>C	NCBI36
NG_033863.1:g.7637T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.839T>G MANE Select	ENSP00000215882.5:p.Val280Gly
ENST00000215882.9:c.839T>G	ENSP00000215882.5:p.Val280Gly
ENST00000451283.5:c.530T>G	ENSP00000401480.1:p.Val177Gly
ENST00000470922.5:n.981T>G
NM_001256534.1:c.860T>G	NP_001243463.1:p.Val287Gly
NM_001287387.1:c.530T>G	NP_001274316.1:p.Val177Gly
NM_005984.4:c.839T>G	NP_005975.1:p.Val280Gly
NR_046298.2:n.890T>G
NM_005984.5:c.839T>G MANE Select	NP_005975.1:p.Val280Gly
NM_001256534.2:c.860T>G	NP_001243463.1:p.Val287Gly
NM_001287387.2:c.530T>G	NP_001274316.1:p.Val177Gly
NR_046298.3:n.763T>G