Canonical Allele Identifier: CA410638727

Gene: SLC25A1

Linked Data

• MyVariant Identifiers: chr22:g.19165266C>T (hg19) ; chr22:g.19177753C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177753C>T , CM000684.2:g.19177753C>T	GRCh38
NC_000022.10:g.19165266C>T , CM000684.1:g.19165266C>T	GRCh37
NC_000022.9:g.17545266C>T	NCBI36
NG_033805.1:g.118964G>A
NG_033863.1:g.6111G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.415G>A MANE Select	ENSP00000215882.5:p.Val139Ile
ENST00000215882.9:c.415G>A	ENSP00000215882.5:p.Val139Ile
ENST00000451283.5:c.106G>A	ENSP00000401480.1:p.Val36Ile
ENST00000461267.1:n.561G>A
ENST00000470922.5:n.557G>A
NM_001256534.1:c.436G>A	NP_001243463.1:p.Val146Ile
NM_001287387.1:c.106G>A	NP_001274316.1:p.Val36Ile
NM_005984.4:c.415G>A	NP_005975.1:p.Val139Ile
NR_046298.2:n.492+189G>A
NM_005984.5:c.415G>A MANE Select	NP_005975.1:p.Val139Ile
NM_001256534.2:c.436G>A	NP_001243463.1:p.Val146Ile
NM_001287387.2:c.106G>A	NP_001274316.1:p.Val36Ile
NR_046298.3:n.365+189G>A