Canonical Allele Identifier: CA410636700

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19164189G>C (hg19) ; chr22:g.19176676G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176676G>C , CM000684.2:g.19176676G>C	GRCh38
NC_000022.10:g.19164189G>C , CM000684.1:g.19164189G>C	GRCh37
NC_000022.9:g.17544189G>C	NCBI36
NG_033863.1:g.7188C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.649C>G MANE Select	ENSP00000215882.5:p.Pro217Ala
ENST00000215882.9:c.649C>G	ENSP00000215882.5:p.Pro217Ala
ENST00000451283.5:c.340C>G	ENSP00000401480.1:p.Pro114Ala
ENST00000461267.1:n.795C>G
ENST00000470922.5:n.791C>G
NM_001256534.1:c.670C>G	NP_001243463.1:p.Pro224Ala
NM_001287387.1:c.340C>G	NP_001274316.1:p.Pro114Ala
NM_005984.4:c.649C>G	NP_005975.1:p.Pro217Ala
NR_046298.2:n.700C>G
NM_005984.5:c.649C>G MANE Select	NP_005975.1:p.Pro217Ala
NM_001256534.2:c.670C>G	NP_001243463.1:p.Pro224Ala
NM_001287387.2:c.340C>G	NP_001274316.1:p.Pro114Ala
NR_046298.3:n.573C>G