Canonical Allele Identifier: CA410637284

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176907-C-G
• MyVariant Identifiers: chr22:g.19164420C>G (hg19) ; chr22:g.19176907C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176907C>G , CM000684.2:g.19176907C>G	GRCh38
NC_000022.10:g.19164420C>G , CM000684.1:g.19164420C>G	GRCh37
NC_000022.9:g.17544420C>G	NCBI36
NG_033863.1:g.6957G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.570G>C MANE Select	ENSP00000215882.5:p.Lys190Asn
ENST00000215882.9:c.570G>C	ENSP00000215882.5:p.Lys190Asn
ENST00000451283.5:c.261G>C	ENSP00000401480.1:p.Lys87Asn
ENST00000461267.1:n.716G>C
ENST00000470922.5:n.712G>C
NM_001256534.1:c.591G>C	NP_001243463.1:p.Lys197Asn
NM_001287387.1:c.261G>C	NP_001274316.1:p.Lys87Asn
NM_005984.4:c.570G>C	NP_005975.1:p.Lys190Asn
NR_046298.2:n.621G>C
NM_005984.5:c.570G>C MANE Select	NP_005975.1:p.Lys190Asn
NM_001256534.2:c.591G>C	NP_001243463.1:p.Lys197Asn
NM_001287387.2:c.261G>C	NP_001274316.1:p.Lys87Asn
NR_046298.3:n.494G>C