Canonical Allele Identifier: CA410637351

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19164437T>G (hg19) ; chr22:g.19176924T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176924T>G , CM000684.2:g.19176924T>G	GRCh38
NC_000022.10:g.19164437T>G , CM000684.1:g.19164437T>G	GRCh37
NC_000022.9:g.17544437T>G	NCBI36
NG_033863.1:g.6940A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.553A>C MANE Select	ENSP00000215882.5:p.Thr185Pro
ENST00000215882.9:c.553A>C	ENSP00000215882.5:p.Thr185Pro
ENST00000451283.5:c.244A>C	ENSP00000401480.1:p.Thr82Pro
ENST00000461267.1:n.699A>C
ENST00000470922.5:n.695A>C
NM_001256534.1:c.574A>C	NP_001243463.1:p.Thr192Pro
NM_001287387.1:c.244A>C	NP_001274316.1:p.Thr82Pro
NM_005984.4:c.553A>C	NP_005975.1:p.Thr185Pro
NR_046298.2:n.604A>C
NM_005984.5:c.553A>C MANE Select	NP_005975.1:p.Thr185Pro
NM_001256534.2:c.574A>C	NP_001243463.1:p.Thr192Pro
NM_001287387.2:c.244A>C	NP_001274316.1:p.Thr82Pro
NR_046298.3:n.477A>C