Canonical Allele Identifier: CA10097385

Gene: SLC25A1

Linked Data

• dbSNP Id: rs781925968
• ExAC: 22:19164412 G / C
• gnomAD v2: 22-19164412-G-C
• gnomAD v4: 22-19176899-G-C
• MyVariant Identifiers: chr22:g.19164412G>C (hg19) ; chr22:g.19176899G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176899G>C , CM000684.2:g.19176899G>C	GRCh38
NC_000022.10:g.19164412G>C , CM000684.1:g.19164412G>C	GRCh37
NC_000022.9:g.17544412G>C	NCBI36
NG_033863.1:g.6965C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.578C>G MANE Select	ENSP00000215882.5:p.Ser193Trp
ENST00000215882.9:c.578C>G	ENSP00000215882.5:p.Ser193Trp
ENST00000451283.5:c.269C>G	ENSP00000401480.1:p.Ser90Trp
ENST00000461267.1:n.724C>G
ENST00000470922.5:n.720C>G
NM_001256534.1:c.599C>G	NP_001243463.1:p.Ser200Trp
NM_001287387.1:c.269C>G	NP_001274316.1:p.Ser90Trp
NM_005984.4:c.578C>G	NP_005975.1:p.Ser193Trp
NR_046298.2:n.629C>G
NM_005984.5:c.578C>G MANE Select	NP_005975.1:p.Ser193Trp
NM_001256534.2:c.599C>G	NP_001243463.1:p.Ser200Trp
NM_001287387.2:c.269C>G	NP_001274316.1:p.Ser90Trp
NR_046298.3:n.502C>G