Canonical Allele Identifier: CA3156403

Gene: SLC25A4

Linked Data

• dbSNP Id: rs530876685
• ExAC: 4:186064479 G / A
• gnomAD v2: 4-186064479-G-A
• gnomAD v3: 4-185143325-G-A
• gnomAD v4: 4-185143325-G-A
• MyVariant Identifiers: chr4:g.186064479G>A (hg19) ; chr4:g.185143325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.185143325G>A , CM000666.2:g.185143325G>A	GRCh38
NC_000004.11:g.186064479G>A , CM000666.1:g.186064479G>A	GRCh37
NC_000004.10:g.186301473G>A	NCBI36
NG_013001.1:g.5063G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281456.11:c.-48G>A MANE Select	ENSP00000281456.5:n.-48G>A
ENST00000281456.10:c.-48G>A	ENSP00000281456.5:n.-48G>A
ENST00000491736.1:c.-48G>A	ENSP00000476711.1:n.-48G>A
NM_001151.3:c.-48G>A	NP_001142.2:n.-48G>A
NM_001151.4:c.-48G>A MANE Select	NP_001142.2:n.-48G>A