Canonical Allele Identifier: CA410635821

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176579-T-A
• MyVariant Identifiers: chr22:g.19164092T>A (hg19) ; chr22:g.19176579T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176579T>A , CM000684.2:g.19176579T>A	GRCh38
NC_000022.10:g.19164092T>A , CM000684.1:g.19164092T>A	GRCh37
NC_000022.9:g.17544092T>A	NCBI36
NG_033863.1:g.7285A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.746A>T MANE Select	ENSP00000215882.5:p.Gln249Leu
ENST00000215882.9:c.746A>T	ENSP00000215882.5:p.Gln249Leu
ENST00000451283.5:c.437A>T	ENSP00000401480.1:p.Gln146Leu
ENST00000470922.5:n.888A>T
NM_001256534.1:c.767A>T	NP_001243463.1:p.Gln256Leu
NM_001287387.1:c.437A>T	NP_001274316.1:p.Gln146Leu
NM_005984.4:c.746A>T	NP_005975.1:p.Gln249Leu
NR_046298.2:n.797A>T
NM_005984.5:c.746A>T MANE Select	NP_005975.1:p.Gln249Leu
NM_001256534.2:c.767A>T	NP_001243463.1:p.Gln256Leu
NM_001287387.2:c.437A>T	NP_001274316.1:p.Gln146Leu
NR_046298.3:n.670A>T