Canonical Allele Identifier: CA410636092

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19164120G>C (hg19) ; chr22:g.19176607G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176607G>C , CM000684.2:g.19176607G>C	GRCh38
NC_000022.10:g.19164120G>C , CM000684.1:g.19164120G>C	GRCh37
NC_000022.9:g.17544120G>C	NCBI36
NG_033863.1:g.7257C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.718C>G MANE Select	ENSP00000215882.5:p.Pro240Ala
ENST00000215882.9:c.718C>G	ENSP00000215882.5:p.Pro240Ala
ENST00000451283.5:c.409C>G	ENSP00000401480.1:p.Pro137Ala
ENST00000470922.5:n.860C>G
NM_001256534.1:c.739C>G	NP_001243463.1:p.Pro247Ala
NM_001287387.1:c.409C>G	NP_001274316.1:p.Pro137Ala
NM_005984.4:c.718C>G	NP_005975.1:p.Pro240Ala
NR_046298.2:n.769C>G
NM_005984.5:c.718C>G MANE Select	NP_005975.1:p.Pro240Ala
NM_001256534.2:c.739C>G	NP_001243463.1:p.Pro247Ala
NM_001287387.2:c.409C>G	NP_001274316.1:p.Pro137Ala
NR_046298.3:n.642C>G