Canonical Allele Identifier: CA512978132

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19163667G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176154G>T , CM000684.2:g.19176154G>T	GRCh38
NC_000022.10:g.19163667G>T , CM000684.1:g.19163667G>T	GRCh37
NC_000022.9:g.17543667G>T	NCBI36
NG_033863.1:g.7710C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.912C>A MANE Select	ENSP00000215882.5:p.Leu304=
ENST00000215882.9:c.912C>A	ENSP00000215882.5:p.Leu304=
ENST00000451283.5:c.603C>A	ENSP00000401480.1:p.Leu201=
ENST00000470922.5:n.1054C>A
NM_001256534.1:c.933C>A	NP_001243463.1:p.Leu311=
NM_001287387.1:c.603C>A	NP_001274316.1:p.Leu201=
NM_005984.4:c.912C>A	NP_005975.1:p.Leu304=
NR_046298.2:n.963C>A
NM_005984.5:c.912C>A MANE Select	NP_005975.1:p.Leu304=
NM_001256534.2:c.933C>A	NP_001243463.1:p.Leu311=
NM_001287387.2:c.603C>A	NP_001274316.1:p.Leu201=
NR_046298.3:n.836C>A