Canonical Allele Identifier: CA352205260

Gene: SLC25A38

Linked Data

• dbSNP Id: rs2041807236
• gnomAD v4: 3-39394502-G-A
• MyVariant Identifiers: chr3:g.39435993G>A (hg19) ; chr3:g.39394502G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394502G>A , CM000665.2:g.39394502G>A	GRCh38
NC_000003.11:g.39435993G>A , CM000665.1:g.39435993G>A	GRCh37
NC_000003.10:g.39410997G>A	NCBI36
NG_016931.1:g.16179G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.670G>A	ENSP00000495376.1:p.Val224Ile
ENST00000643672.1:c.667G>A	ENSP00000494532.1:p.Val223Ile
ENST00000645280.1:c.664G>A	ENSP00000496690.1:p.Val222Ile
ENST00000648579.1:c.*15G>A	ENSP00000497638.1:n.*15G>A
ENST00000650617.1:c.718G>A MANE Select	ENSP00000497532.1:p.Val240Ile
ENST00000273158.8:c.718G>A	ENSP00000273158.3:p.Val240Ile
NM_017875.2:c.718G>A	NP_060345.2:p.Val240Ile
XM_006713214.1:c.706G>A	XP_006713277.1:p.Val236Ile
XM_011533869.1:c.700G>A	XP_011532171.1:p.Val234Ile
XM_011533870.1:c.667G>A	XP_011532172.1:p.Val223Ile
XM_011533871.1:c.538G>A	XP_011532173.1:p.Val180Ile
NM_001354798.1:c.626-1896G>A	NP_001341727.1:n.626-1896G>A
NM_017875.4:c.718G>A MANE Select	NP_060345.2:p.Val240Ile
XM_006713214.2:c.706G>A	XP_006713277.1:p.Val236Ile
XM_011533869.2:c.700G>A	XP_011532171.1:p.Val234Ile
XM_024453611.1:c.664G>A	XP_024309379.1:p.Val222Ile
NM_001354798.2:c.626-1896G>A	NP_001341727.1:n.626-1896G>A