Canonical Allele Identifier: CA10097242

Gene: SLC25A1

Linked Data

• dbSNP Id: rs782640181
• ExAC: 22:19163672 G / C
• gnomAD v2: 22-19163672-G-C
• gnomAD v4: 22-19176159-G-C
• MyVariant Identifiers: chr22:g.19163672G>C (hg19) ; chr22:g.19176159G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176159G>C , CM000684.2:g.19176159G>C	GRCh38
NC_000022.10:g.19163672G>C , CM000684.1:g.19163672G>C	GRCh37
NC_000022.9:g.17543672G>C	NCBI36
NG_033863.1:g.7705C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.907C>G MANE Select	ENSP00000215882.5:p.Leu303Val
ENST00000215882.9:c.907C>G	ENSP00000215882.5:p.Leu303Val
ENST00000451283.5:c.598C>G	ENSP00000401480.1:p.Leu200Val
ENST00000470922.5:n.1049C>G
NM_001256534.1:c.928C>G	NP_001243463.1:p.Leu310Val
NM_001287387.1:c.598C>G	NP_001274316.1:p.Leu200Val
NM_005984.4:c.907C>G	NP_005975.1:p.Leu303Val
NR_046298.2:n.958C>G
NM_005984.5:c.907C>G MANE Select	NP_005975.1:p.Leu303Val
NM_001256534.2:c.928C>G	NP_001243463.1:p.Leu310Val
NM_001287387.2:c.598C>G	NP_001274316.1:p.Leu200Val
NR_046298.3:n.831C>G