Canonical Allele Identifier: CA10097341

Gene: SLC25A1

Linked Data

• dbSNP Id: rs782781101
• ExAC: 22:19164170 G / A
• gnomAD v2: 22-19164170-G-A
• gnomAD v4: 22-19176657-G-A
• MyVariant Identifiers: chr22:g.19164170G>A (hg19) ; chr22:g.19176657G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176657G>A , CM000684.2:g.19176657G>A	GRCh38
NC_000022.10:g.19164170G>A , CM000684.1:g.19164170G>A	GRCh37
NC_000022.9:g.17544170G>A	NCBI36
NG_033863.1:g.7207C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.668C>T MANE Select	ENSP00000215882.5:p.Thr223Ile
ENST00000215882.9:c.668C>T	ENSP00000215882.5:p.Thr223Ile
ENST00000451283.5:c.359C>T	ENSP00000401480.1:p.Thr120Ile
ENST00000470922.5:n.810C>T
NM_001256534.1:c.689C>T	NP_001243463.1:p.Thr230Ile
NM_001287387.1:c.359C>T	NP_001274316.1:p.Thr120Ile
NM_005984.4:c.668C>T	NP_005975.1:p.Thr223Ile
NR_046298.2:n.719C>T
NM_005984.5:c.668C>T MANE Select	NP_005975.1:p.Thr223Ile
NM_001256534.2:c.689C>T	NP_001243463.1:p.Thr230Ile
NM_001287387.2:c.359C>T	NP_001274316.1:p.Thr120Ile
NR_046298.3:n.592C>T