Canonical Allele Identifier: CA512978053

Gene: SLC25A1

Linked Data

• dbSNP Id: rs782063908
• gnomAD v3: 22-19176136-C-G
• gnomAD v4: 22-19176136-C-G
• MyVariant Identifiers: chr22:g.19163649C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176136C>G , CM000684.2:g.19176136C>G	GRCh38
NC_000022.10:g.19163649C>G , CM000684.1:g.19163649C>G	GRCh37
NC_000022.9:g.17543649C>G	NCBI36
NG_033863.1:g.7728G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.930G>C MANE Select	ENSP00000215882.5:p.Thr310=
ENST00000215882.9:c.930G>C	ENSP00000215882.5:p.Thr310=
ENST00000451283.5:c.621G>C	ENSP00000401480.1:p.Thr207=
ENST00000470922.5:n.1072G>C
NM_001256534.1:c.951G>C	NP_001243463.1:p.Thr317=
NM_001287387.1:c.621G>C	NP_001274316.1:p.Thr207=
NM_005984.4:c.930G>C	NP_005975.1:p.Thr310=
NR_046298.2:n.981G>C
NM_005984.5:c.930G>C MANE Select	NP_005975.1:p.Thr310=
NM_001256534.2:c.951G>C	NP_001243463.1:p.Thr317=
NM_001287387.2:c.621G>C	NP_001274316.1:p.Thr207=
NR_046298.3:n.854G>C