Canonical Allele Identifier: CA16604585

Gene: SLC25A38

Linked Data

• ClinVar Variation Id: 387070
• ClinVar RCV Id: RCV000443757
• dbSNP Id: rs1057522681
• gnomAD v3: 3-39383805-G-A
• gnomAD v4: 3-39383805-G-A
• MyVariant Identifiers: chr3:g.39425296G>A (hg19) ; chr3:g.39383805G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39383805G>A , CM000665.2:g.39383805G>A	GRCh38
NC_000003.11:g.39425296G>A , CM000665.1:g.39425296G>A	GRCh37
NC_000003.10:g.39400300G>A	NCBI36
NG_016931.1:g.5482G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.69+12G>A	ENSP00000495376.1:n.69+12G>A
ENST00000645630.1:c.69+12G>A	ENSP00000493714.1:n.69+12G>A
ENST00000648579.1:c.69+12G>A	ENSP00000497638.1:n.69+12G>A
ENST00000650617.1:c.69+12G>A MANE Select	ENSP00000497532.1:n.69+12G>A
ENST00000273158.8:c.69+12G>A	ENSP00000273158.3:n.69+12G>A
ENST00000431510.1:c.29+12G>A	ENSP00000394244.1:n.29+12G>A
NM_017875.2:c.69+12G>A	NP_060345.2:n.69+12G>A
XM_006713214.1:c.29+12G>A	XP_006713277.1:n.29+12G>A
XM_011533871.1:c.69+12G>A	XP_011532173.1:n.69+12G>A
NM_001354798.1:c.69+12G>A	NP_001341727.1:n.69+12G>A
NM_017875.4:c.69+12G>A MANE Select	NP_060345.2:n.69+12G>A
XM_006713214.2:c.29+12G>A	XP_006713277.1:n.29+12G>A
NM_001354798.2:c.69+12G>A	NP_001341727.1:n.69+12G>A