Canonical Allele Identifier: CA410638521

Gene: SLC25A1

Linked Data

• dbSNP Id: rs1555922915
• gnomAD v2: 22-19165252-C-T
• MyVariant Identifiers: chr22:g.19165252C>T (hg19) ; chr22:g.19177739C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177739C>T , CM000684.2:g.19177739C>T	GRCh38
NC_000022.10:g.19165252C>T , CM000684.1:g.19165252C>T	GRCh37
NC_000022.9:g.17545252C>T	NCBI36
NG_033805.1:g.118978G>A
NG_033863.1:g.6125G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.429G>A MANE Select	ENSP00000215882.5:p.Met143Ile
ENST00000215882.9:c.429G>A	ENSP00000215882.5:p.Met143Ile
ENST00000451283.5:c.120G>A	ENSP00000401480.1:p.Met40Ile
ENST00000461267.1:n.575G>A
ENST00000470922.5:n.571G>A
NM_001256534.1:c.450G>A	NP_001243463.1:p.Met150Ile
NM_001287387.1:c.120G>A	NP_001274316.1:p.Met40Ile
NM_005984.4:c.429G>A	NP_005975.1:p.Met143Ile
NR_046298.2:n.492+203G>A
NM_005984.5:c.429G>A MANE Select	NP_005975.1:p.Met143Ile
NM_001256534.2:c.450G>A	NP_001243463.1:p.Met150Ile
NM_001287387.2:c.120G>A	NP_001274316.1:p.Met40Ile
NR_046298.3:n.365+203G>A