Canonical Allele Identifier: CA410635952

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176592-T-G
• MyVariant Identifiers: chr22:g.19164105T>G (hg19) ; chr22:g.19176592T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176592T>G , CM000684.2:g.19176592T>G	GRCh38
NC_000022.10:g.19164105T>G , CM000684.1:g.19164105T>G	GRCh37
NC_000022.9:g.17544105T>G	NCBI36
NG_033863.1:g.7272A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.733A>C MANE Select	ENSP00000215882.5:p.Lys245Gln
ENST00000215882.9:c.733A>C	ENSP00000215882.5:p.Lys245Gln
ENST00000451283.5:c.424A>C	ENSP00000401480.1:p.Lys142Gln
ENST00000470922.5:n.875A>C
NM_001256534.1:c.754A>C	NP_001243463.1:p.Lys252Gln
NM_001287387.1:c.424A>C	NP_001274316.1:p.Lys142Gln
NM_005984.4:c.733A>C	NP_005975.1:p.Lys245Gln
NR_046298.2:n.784A>C
NM_005984.5:c.733A>C MANE Select	NP_005975.1:p.Lys245Gln
NM_001256534.2:c.754A>C	NP_001243463.1:p.Lys252Gln
NM_001287387.2:c.424A>C	NP_001274316.1:p.Lys142Gln
NR_046298.3:n.657A>C