Canonical Allele Identifier: CA638503368

Gene: SLC25A1

Linked Data

• dbSNP Id: rs1555922885
• gnomAD v2: 22-19165212-C-T
• gnomAD v4: 22-19177699-C-T
• MyVariant Identifiers: chr22:g.19165212C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177699C>T , CM000684.2:g.19177699C>T	GRCh38
NC_000022.10:g.19165212C>T , CM000684.1:g.19165212C>T	GRCh37
NC_000022.9:g.17545212C>T	NCBI36
NG_033805.1:g.119018G>A
NG_033863.1:g.6165G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000215882.10:c.441+28G>A MANE Select	ENSP00000215882.5:n.441+28G>A
ENST00000215882.9:c.441+28G>A	ENSP00000215882.5:n.441+28G>A
ENST00000451283.5:c.132+28G>A	ENSP00000401480.1:n.132+28G>A
ENST00000461267.1:n.587+28G>A
ENST00000470922.5:n.583+28G>A
NM_001256534.1:c.462+28G>A	NP_001243463.1:n.462+28G>A
NM_001287387.1:c.132+28G>A	NP_001274316.1:n.132+28G>A
NM_005984.4:c.441+28G>A	NP_005975.1:n.441+28G>A
NR_046298.2:n.492+243G>A
NM_005984.5:c.441+28G>A MANE Select	NP_005975.1:n.441+28G>A
NM_001256534.2:c.462+28G>A	NP_001243463.1:n.462+28G>A
NM_001287387.2:c.132+28G>A	NP_001274316.1:n.132+28G>A
NR_046298.3:n.365+243G>A