Canonical Allele Identifier: CA410635591

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19163995G>C (hg19) ; chr22:g.19176482G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176482G>C , CM000684.2:g.19176482G>C	GRCh38
NC_000022.10:g.19163995G>C , CM000684.1:g.19163995G>C	GRCh37
NC_000022.9:g.17543995G>C	NCBI36
NG_033863.1:g.7382C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.760C>G MANE Select	ENSP00000215882.5:p.His254Asp
ENST00000215882.9:c.760C>G	ENSP00000215882.5:p.His254Asp
ENST00000451283.5:c.451C>G	ENSP00000401480.1:p.His151Asp
ENST00000470922.5:n.902C>G
NM_001256534.1:c.781C>G	NP_001243463.1:p.His261Asp
NM_001287387.1:c.451C>G	NP_001274316.1:p.His151Asp
NM_005984.4:c.760C>G	NP_005975.1:p.His254Asp
NR_046298.2:n.811C>G
NM_005984.5:c.760C>G MANE Select	NP_005975.1:p.His254Asp
NM_001256534.2:c.781C>G	NP_001243463.1:p.His261Asp
NM_001287387.2:c.451C>G	NP_001274316.1:p.His151Asp
NR_046298.3:n.684C>G