Canonical Allele Identifier: CA2577643136

Gene: SLC25A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177673C>G , CM000684.2:g.19177673C>G	GRCh38
NC_000022.10:g.19165186C>G , CM000684.1:g.19165186C>G	GRCh37
NC_000022.9:g.17545186C>G	NCBI36
NG_033805.1:g.119044G>C
NG_033863.1:g.6191G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.441+54G>C MANE Select	ENSP00000215882.5:n.441+54G>C
ENST00000215882.9:c.441+54G>C	ENSP00000215882.5:n.441+54G>C
ENST00000451283.5:c.132+54G>C	ENSP00000401480.1:n.132+54G>C
ENST00000461267.1:n.587+54G>C
ENST00000470922.5:n.583+54G>C
NM_001256534.1:c.462+54G>C	NP_001243463.1:n.462+54G>C
NM_001287387.1:c.132+54G>C	NP_001274316.1:n.132+54G>C
NM_005984.4:c.441+54G>C	NP_005975.1:n.441+54G>C
NR_046298.2:n.492+269G>C
NM_005984.5:c.441+54G>C MANE Select	NP_005975.1:n.441+54G>C
NM_001256534.2:c.462+54G>C	NP_001243463.1:n.462+54G>C
NM_001287387.2:c.132+54G>C	NP_001274316.1:n.132+54G>C
NR_046298.3:n.365+269G>C