Canonical Allele Identifier: CA638333839

Gene: SLC25A1

Linked Data

• dbSNP Id: rs1173206471
• gnomAD v2: 22-19164570-G-A
• gnomAD v3: 22-19177057-G-A
• gnomAD v4: 22-19177057-G-A
• MyVariant Identifiers: chr22:g.19164570G>A (hg19) ; chr22:g.19177057G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177057G>A , CM000684.2:g.19177057G>A	GRCh38
NC_000022.10:g.19164570G>A , CM000684.1:g.19164570G>A	GRCh37
NC_000022.9:g.17544570G>A	NCBI36
NG_033863.1:g.6807C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.526+63C>T MANE Select	ENSP00000215882.5:n.526+63C>T
ENST00000215882.9:c.526+63C>T	ENSP00000215882.5:n.526+63C>T
ENST00000451283.5:c.217+63C>T	ENSP00000401480.1:n.217+63C>T
ENST00000461267.1:n.672+63C>T
ENST00000470922.5:n.668+63C>T
NM_001256534.1:c.547+63C>T	NP_001243463.1:n.547+63C>T
NM_001287387.1:c.217+63C>T	NP_001274316.1:n.217+63C>T
NM_005984.4:c.526+63C>T	NP_005975.1:n.526+63C>T
NR_046298.2:n.577+63C>T
NM_005984.5:c.526+63C>T MANE Select	NP_005975.1:n.526+63C>T
NM_001256534.2:c.547+63C>T	NP_001243463.1:n.547+63C>T
NM_001287387.2:c.217+63C>T	NP_001274316.1:n.217+63C>T
NR_046298.3:n.450+63C>T