Canonical Allele Identifier: CA10618705

Gene: SLC25A38

Linked Data

• ClinVar Variation Id: 345140
• ClinVar RCV Id: RCV000309157 ; RCV000391659 ; RCV001537121
• dbSNP Id: rs143903497
• gnomAD v2: 3-39425007-A-G
• gnomAD v3: 3-39383516-A-G
• gnomAD v4: 3-39383516-A-G
• MyVariant Identifiers: chr3:g.39425007A>G (hg19) ; chr3:g.39383516A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39383516A>G , CM000665.2:g.39383516A>G	GRCh38
NC_000003.11:g.39425007A>G , CM000665.1:g.39425007A>G	GRCh37
NC_000003.10:g.39400011A>G	NCBI36
NG_016931.1:g.5193A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645630.1:c.-209A>G	ENSP00000493714.1:n.-209A>G
ENST00000648579.1:c.-209A>G	ENSP00000497638.1:n.-209A>G
ENST00000650617.1:c.-209A>G MANE Select	ENSP00000497532.1:n.-209A>G
ENST00000273158.8:c.-209A>G	ENSP00000273158.3:n.-209A>G
ENST00000431510.1:c.-249A>G	ENSP00000394244.1:n.-249A>G
NM_017875.2:c.-209A>G	NP_060345.2:n.-209A>G
XM_006713214.1:c.-249A>G	XP_006713277.1:n.-249A>G
XM_011533871.1:c.-209A>G	XP_011532173.1:n.-209A>G
NM_001354798.1:c.-209A>G	NP_001341727.1:n.-209A>G
NM_017875.4:c.-209A>G MANE Select	NP_060345.2:n.-209A>G
XM_006713214.2:c.-249A>G	XP_006713277.1:n.-249A>G
XR_002959626.1:n.153T>C
XR_940747.3:n.153T>C
NM_001354798.2:c.-209A>G	NP_001341727.1:n.-209A>G