Canonical Allele Identifier: CA410635837

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19164093G>A (hg19) ; chr22:g.19176580G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176580G>A , CM000684.2:g.19176580G>A	GRCh38
NC_000022.10:g.19164093G>A , CM000684.1:g.19164093G>A	GRCh37
NC_000022.9:g.17544093G>A	NCBI36
NG_033863.1:g.7284C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.745C>T MANE Select	ENSP00000215882.5:p.Gln249Ter
ENST00000215882.9:c.745C>T	ENSP00000215882.5:p.Gln249Ter
ENST00000451283.5:c.436C>T	ENSP00000401480.1:p.Gln146Ter
ENST00000470922.5:n.887C>T
NM_001256534.1:c.766C>T	NP_001243463.1:p.Gln256Ter
NM_001287387.1:c.436C>T	NP_001274316.1:p.Gln146Ter
NM_005984.4:c.745C>T	NP_005975.1:p.Gln249Ter
NR_046298.2:n.796C>T
NM_005984.5:c.745C>T MANE Select	NP_005975.1:p.Gln249Ter
NM_001256534.2:c.766C>T	NP_001243463.1:p.Gln256Ter
NM_001287387.2:c.436C>T	NP_001274316.1:p.Gln146Ter
NR_046298.3:n.669C>T