Canonical Allele Identifier: CA512978230

Gene: SLC25A1

Linked Data

• dbSNP Id: rs1379816647
• MyVariant Identifiers: chr22:g.19163688A>G (hg19) ; chr22:g.19176175A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176175A>G , CM000684.2:g.19176175A>G	GRCh38
NC_000022.10:g.19163688A>G , CM000684.1:g.19163688A>G	GRCh37
NC_000022.9:g.17543688A>G	NCBI36
NG_033863.1:g.7689T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.891T>C MANE Select	ENSP00000215882.5:p.Tyr297=
ENST00000215882.9:c.891T>C	ENSP00000215882.5:p.Tyr297=
ENST00000451283.5:c.582T>C	ENSP00000401480.1:p.Tyr194=
ENST00000470922.5:n.1033T>C
NM_001256534.1:c.912T>C	NP_001243463.1:p.Tyr304=
NM_001287387.1:c.582T>C	NP_001274316.1:p.Tyr194=
NM_005984.4:c.891T>C	NP_005975.1:p.Tyr297=
NR_046298.2:n.942T>C
NM_005984.5:c.891T>C MANE Select	NP_005975.1:p.Tyr297=
NM_001256534.2:c.912T>C	NP_001243463.1:p.Tyr304=
NM_001287387.2:c.582T>C	NP_001274316.1:p.Tyr194=
NR_046298.3:n.815T>C