Canonical Allele Identifier: CA638503362

Gene: SLC25A1

Linked Data

• dbSNP Id: rs1162788250
• gnomAD v2: 22-19165195-C-G
• gnomAD v3: 22-19177682-C-G
• gnomAD v4: 22-19177682-C-G
• MyVariant Identifiers: chr22:g.19165195C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177682C>G , CM000684.2:g.19177682C>G	GRCh38
NC_000022.10:g.19165195C>G , CM000684.1:g.19165195C>G	GRCh37
NC_000022.9:g.17545195C>G	NCBI36
NG_033805.1:g.119035G>C
NG_033863.1:g.6182G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000215882.10:c.441+45G>C MANE Select	ENSP00000215882.5:n.441+45G>C
ENST00000215882.9:c.441+45G>C	ENSP00000215882.5:n.441+45G>C
ENST00000451283.5:c.132+45G>C	ENSP00000401480.1:n.132+45G>C
ENST00000461267.1:n.587+45G>C
ENST00000470922.5:n.583+45G>C
NM_001256534.1:c.462+45G>C	NP_001243463.1:n.462+45G>C
NM_001287387.1:c.132+45G>C	NP_001274316.1:n.132+45G>C
NM_005984.4:c.441+45G>C	NP_005975.1:n.441+45G>C
NR_046298.2:n.492+260G>C
NM_005984.5:c.441+45G>C MANE Select	NP_005975.1:n.441+45G>C
NM_001256534.2:c.462+45G>C	NP_001243463.1:n.462+45G>C
NM_001287387.2:c.132+45G>C	NP_001274316.1:n.132+45G>C
NR_046298.3:n.365+260G>C