Canonical Allele Identifier: CA638503382

Gene: SLC25A1

Linked Data

• dbSNP Id: rs1277937971
• gnomAD v2: 22-19164283-G-C
• gnomAD v4: 22-19176770-G-C
• MyVariant Identifiers: chr22:g.19164283G>C (hg19) ; chr22:g.19176770G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176770G>C , CM000684.2:g.19176770G>C	GRCh38
NC_000022.10:g.19164283G>C , CM000684.1:g.19164283G>C	GRCh37
NC_000022.9:g.17544283G>C	NCBI36
NG_033863.1:g.7094C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.632-77C>G MANE Select	ENSP00000215882.5:n.632-77C>G
ENST00000215882.9:c.632-77C>G	ENSP00000215882.5:n.632-77C>G
ENST00000451283.5:c.323-77C>G	ENSP00000401480.1:n.323-77C>G
ENST00000461267.1:n.778-77C>G
ENST00000470922.5:n.774-77C>G
NM_001256534.1:c.653-77C>G	NP_001243463.1:n.653-77C>G
NM_001287387.1:c.323-77C>G	NP_001274316.1:n.323-77C>G
NM_005984.4:c.632-77C>G	NP_005975.1:n.632-77C>G
NR_046298.2:n.683-77C>G
NM_005984.5:c.632-77C>G MANE Select	NP_005975.1:n.632-77C>G
NM_001256534.2:c.653-77C>G	NP_001243463.1:n.653-77C>G
NM_001287387.2:c.323-77C>G	NP_001274316.1:n.323-77C>G
NR_046298.3:n.556-77C>G