Canonical Allele Identifier: CA73041134

Gene: SLC25A38

Linked Data

• ClinVar Variation Id: 901680
• ClinVar RCV Id: RCV001147737
• dbSNP Id: rs576792249
• gnomAD v3: 3-39396915-G-A
• gnomAD v4: 3-39396915-G-A
• MyVariant Identifiers: chr3:g.39438406G>A (hg19) ; chr3:g.39396915G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39396915G>A , CM000665.2:g.39396915G>A	GRCh38
NC_000003.11:g.39438406G>A , CM000665.1:g.39438406G>A	GRCh37
NC_000003.10:g.39413410G>A	NCBI36
NG_016931.1:g.18592G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000643672.1:c.*395G>A	ENSP00000494532.1:n.*395G>A
ENST00000648579.1:c.*607G>A	ENSP00000497638.1:n.*607G>A
ENST00000650617.1:c.*395G>A MANE Select	ENSP00000497532.1:n.*395G>A
ENST00000273158.8:c.*395G>A	ENSP00000273158.3:n.*395G>A
NM_017875.2:c.*395G>A	NP_060345.2:n.*395G>A
XM_006713214.1:c.*395G>A	XP_006713277.1:n.*395G>A
XM_011533869.1:c.*395G>A	XP_011532171.1:n.*395G>A
XM_011533870.1:c.*395G>A	XP_011532172.1:n.*395G>A
XM_011533871.1:c.*395G>A	XP_011532173.1:n.*395G>A
NM_001354798.1:c.*429G>A	NP_001341727.1:n.*429G>A
NM_017875.4:c.*395G>A MANE Select	NP_060345.2:n.*395G>A
XM_006713214.2:c.*395G>A	XP_006713277.1:n.*395G>A
XM_011533869.2:c.*395G>A	XP_011532171.1:n.*395G>A
XM_024453611.1:c.*395G>A	XP_024309379.1:n.*395G>A
NM_001354798.2:c.*429G>A	NP_001341727.1:n.*429G>A