Canonical Allele Identifier: CA2577643089
Gene: SLC25A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19177042A>C , CM000684.2:g.19177042A>C GRCh38
NC_000022.10:g.19164555A>C , CM000684.1:g.19164555A>C GRCh37
NC_000022.9:g.17544555A>C NCBI36
NG_033863.1:g.6822T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.526+78T>G MANE Select ENSP00000215882.5:n.526+78T>G
ENST00000215882.9:c.526+78T>G ENSP00000215882.5:n.526+78T>G
ENST00000451283.5:c.217+78T>G ENSP00000401480.1:n.217+78T>G
ENST00000461267.1:n.672+78T>G
ENST00000470922.5:n.668+78T>G
NM_001256534.1:c.547+78T>G NP_001243463.1:n.547+78T>G
NM_001287387.1:c.217+78T>G NP_001274316.1:n.217+78T>G
NM_005984.4:c.526+78T>G NP_005975.1:n.526+78T>G
NR_046298.2:n.577+78T>G
NM_005984.5:c.526+78T>G MANE Select NP_005975.1:n.526+78T>G
NM_001256534.2:c.547+78T>G NP_001243463.1:n.547+78T>G
NM_001287387.2:c.217+78T>G NP_001274316.1:n.217+78T>G
NR_046298.3:n.450+78T>G