Canonical Allele Identifier: CA10097252

Gene: SLC25A1

Linked Data

• dbSNP Id: rs782098613
• ExAC: 22:19163753 A / G
• gnomAD v2: 22-19163753-A-G
• gnomAD v4: 22-19176240-A-G
• MyVariant Identifiers: chr22:g.19163753A>G (hg19) ; chr22:g.19176240A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176240A>G , CM000684.2:g.19176240A>G	GRCh38
NC_000022.10:g.19163753A>G , CM000684.1:g.19163753A>G	GRCh37
NC_000022.9:g.17543753A>G	NCBI36
NG_033863.1:g.7624T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.826T>C MANE Select	ENSP00000215882.5:p.Tyr276His
ENST00000215882.9:c.826T>C	ENSP00000215882.5:p.Tyr276His
ENST00000451283.5:c.517T>C	ENSP00000401480.1:p.Tyr173His
ENST00000470922.5:n.968T>C
NM_001256534.1:c.847T>C	NP_001243463.1:p.Tyr283His
NM_001287387.1:c.517T>C	NP_001274316.1:p.Tyr173His
NM_005984.4:c.826T>C	NP_005975.1:p.Tyr276His
NR_046298.2:n.877T>C
NM_005984.5:c.826T>C MANE Select	NP_005975.1:p.Tyr276His
NM_001256534.2:c.847T>C	NP_001243463.1:p.Tyr283His
NM_001287387.2:c.517T>C	NP_001274316.1:p.Tyr173His
NR_046298.3:n.750T>C