Canonical Allele Identifier: CA410634304

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19163948C>G (hg19) ; chr22:g.19176435C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176435C>G , CM000684.2:g.19176435C>G	GRCh38
NC_000022.10:g.19163948C>G , CM000684.1:g.19163948C>G	GRCh37
NC_000022.9:g.17543948C>G	NCBI36
NG_033863.1:g.7429G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.807G>C MANE Select	ENSP00000215882.5:p.Lys269Asn
ENST00000215882.9:c.807G>C	ENSP00000215882.5:p.Lys269Asn
ENST00000451283.5:c.498G>C	ENSP00000401480.1:p.Lys166Asn
ENST00000470922.5:n.949G>C
NM_001256534.1:c.828G>C	NP_001243463.1:p.Lys276Asn
NM_001287387.1:c.498G>C	NP_001274316.1:p.Lys166Asn
NM_005984.4:c.807G>C	NP_005975.1:p.Lys269Asn
NR_046298.2:n.858G>C
NM_005984.5:c.807G>C MANE Select	NP_005975.1:p.Lys269Asn
NM_001256534.2:c.828G>C	NP_001243463.1:p.Lys276Asn
NM_001287387.2:c.498G>C	NP_001274316.1:p.Lys166Asn
NR_046298.3:n.731G>C