Canonical Allele Identifier: CA513188133

Gene: SLC25A1

Linked Data

• dbSNP Id: rs782423784
• gnomAD v3: 22-19176946-C-A
• gnomAD v4: 22-19176946-C-A
• MyVariant Identifiers: chr22:g.19164459C>A (hg19) ; chr22:g.19176946C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176946C>A , CM000684.2:g.19176946C>A	GRCh38
NC_000022.10:g.19164459C>A , CM000684.1:g.19164459C>A	GRCh37
NC_000022.9:g.17544459C>A	NCBI36
NG_033863.1:g.6918G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.531G>T MANE Select	ENSP00000215882.5:p.Leu177=
ENST00000215882.9:c.531G>T	ENSP00000215882.5:p.Leu177=
ENST00000451283.5:c.222G>T	ENSP00000401480.1:p.Leu74=
ENST00000461267.1:n.677G>T
ENST00000470922.5:n.673G>T
NM_001256534.1:c.552G>T	NP_001243463.1:p.Leu184=
NM_001287387.1:c.222G>T	NP_001274316.1:p.Leu74=
NM_005984.4:c.531G>T	NP_005975.1:p.Leu177=
NR_046298.2:n.582G>T
NM_005984.5:c.531G>T MANE Select	NP_005975.1:p.Leu177=
NM_001256534.2:c.552G>T	NP_001243463.1:p.Leu184=
NM_001287387.2:c.222G>T	NP_001274316.1:p.Leu74=
NR_046298.3:n.455G>T