Canonical Allele Identifier: CA410637361

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19164440G>C (hg19) ; chr22:g.19176927G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176927G>C , CM000684.2:g.19176927G>C	GRCh38
NC_000022.10:g.19164440G>C , CM000684.1:g.19164440G>C	GRCh37
NC_000022.9:g.17544440G>C	NCBI36
NG_033863.1:g.6937C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.550C>G MANE Select	ENSP00000215882.5:p.Leu184Val
ENST00000215882.9:c.550C>G	ENSP00000215882.5:p.Leu184Val
ENST00000451283.5:c.241C>G	ENSP00000401480.1:p.Leu81Val
ENST00000461267.1:n.696C>G
ENST00000470922.5:n.692C>G
NM_001256534.1:c.571C>G	NP_001243463.1:p.Leu191Val
NM_001287387.1:c.241C>G	NP_001274316.1:p.Leu81Val
NM_005984.4:c.550C>G	NP_005975.1:p.Leu184Val
NR_046298.2:n.601C>G
NM_005984.5:c.550C>G MANE Select	NP_005975.1:p.Leu184Val
NM_001256534.2:c.571C>G	NP_001243463.1:p.Leu191Val
NM_001287387.2:c.241C>G	NP_001274316.1:p.Leu81Val
NR_046298.3:n.474C>G