Canonical Allele Identifier: CA513188355

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176604-G-A
• MyVariant Identifiers: chr22:g.19164117G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176604G>A , CM000684.2:g.19176604G>A	GRCh38
NC_000022.10:g.19164117G>A , CM000684.1:g.19164117G>A	GRCh37
NC_000022.9:g.17544117G>A	NCBI36
NG_033863.1:g.7260C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.721C>T MANE Select	ENSP00000215882.5:p.Leu241=
ENST00000215882.9:c.721C>T	ENSP00000215882.5:p.Leu241=
ENST00000451283.5:c.412C>T	ENSP00000401480.1:p.Leu138=
ENST00000470922.5:n.863C>T
NM_001256534.1:c.742C>T	NP_001243463.1:p.Leu248=
NM_001287387.1:c.412C>T	NP_001274316.1:p.Leu138=
NM_005984.4:c.721C>T	NP_005975.1:p.Leu241=
NR_046298.2:n.772C>T
NM_005984.5:c.721C>T MANE Select	NP_005975.1:p.Leu241=
NM_001256534.2:c.742C>T	NP_001243463.1:p.Leu248=
NM_001287387.2:c.412C>T	NP_001274316.1:p.Leu138=
NR_046298.3:n.645C>T