Canonical Allele Identifier: CA410635869

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176583-T-A
• MyVariant Identifiers: chr22:g.19164096T>A (hg19) ; chr22:g.19176583T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176583T>A , CM000684.2:g.19176583T>A	GRCh38
NC_000022.10:g.19164096T>A , CM000684.1:g.19164096T>A	GRCh37
NC_000022.9:g.17544096T>A	NCBI36
NG_033863.1:g.7281A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.742A>T MANE Select	ENSP00000215882.5:p.Met248Leu
ENST00000215882.9:c.742A>T	ENSP00000215882.5:p.Met248Leu
ENST00000451283.5:c.433A>T	ENSP00000401480.1:p.Met145Leu
ENST00000470922.5:n.884A>T
NM_001256534.1:c.763A>T	NP_001243463.1:p.Met255Leu
NM_001287387.1:c.433A>T	NP_001274316.1:p.Met145Leu
NM_005984.4:c.742A>T	NP_005975.1:p.Met248Leu
NR_046298.2:n.793A>T
NM_005984.5:c.742A>T MANE Select	NP_005975.1:p.Met248Leu
NM_001256534.2:c.763A>T	NP_001243463.1:p.Met255Leu
NM_001287387.2:c.433A>T	NP_001274316.1:p.Met145Leu
NR_046298.3:n.666A>T