Canonical Allele Identifier: CA321344961

Gene: SLC25A1

Linked Data

• dbSNP Id: rs565130690
• gnomAD v2: 22-19164561-G-A
• gnomAD v3: 22-19177048-G-A
• gnomAD v4: 22-19177048-G-A
• MyVariant Identifiers: chr22:g.19164561G>A (hg19) ; chr22:g.19177048G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177048G>A , CM000684.2:g.19177048G>A	GRCh38
NC_000022.10:g.19164561G>A , CM000684.1:g.19164561G>A	GRCh37
NC_000022.9:g.17544561G>A	NCBI36
NG_033863.1:g.6816C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.526+72C>T MANE Select	ENSP00000215882.5:n.526+72C>T
ENST00000215882.9:c.526+72C>T	ENSP00000215882.5:n.526+72C>T
ENST00000451283.5:c.217+72C>T	ENSP00000401480.1:n.217+72C>T
ENST00000461267.1:n.672+72C>T
ENST00000470922.5:n.668+72C>T
NM_001256534.1:c.547+72C>T	NP_001243463.1:n.547+72C>T
NM_001287387.1:c.217+72C>T	NP_001274316.1:n.217+72C>T
NM_005984.4:c.526+72C>T	NP_005975.1:n.526+72C>T
NR_046298.2:n.577+72C>T
NM_005984.5:c.526+72C>T MANE Select	NP_005975.1:n.526+72C>T
NM_001256534.2:c.547+72C>T	NP_001243463.1:n.547+72C>T
NM_001287387.2:c.217+72C>T	NP_001274316.1:n.217+72C>T
NR_046298.3:n.450+72C>T