Canonical Allele Identifier: CA3156412

Gene: SLC25A4

Linked Data

• ClinVar Variation Id: 1967270
• ClinVar RCV Id: RCV002721913 ; RCV003382928
• dbSNP Id: rs560967545
• ExAC: 4:186064599 G / A
• gnomAD v2: 4-186064599-G-A
• gnomAD v3: 4-185143445-G-A
• gnomAD v4: 4-185143445-G-A
• MyVariant Identifiers: chr4:g.186064599G>A (hg19) ; chr4:g.185143445G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.185143445G>A , CM000666.2:g.185143445G>A	GRCh38
NC_000004.11:g.186064599G>A , CM000666.1:g.186064599G>A	GRCh37
NC_000004.10:g.186301593G>A	NCBI36
NG_013001.1:g.5183G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281456.11:c.73G>A MANE Select	ENSP00000281456.5:p.Ala25Thr
ENST00000281456.10:c.73G>A	ENSP00000281456.5:p.Ala25Thr
ENST00000491736.1:c.73G>A	ENSP00000476711.1:p.Ala25Thr
NM_001151.3:c.73G>A	NP_001142.2:p.Ala25Thr
NM_001151.4:c.73G>A MANE Select	NP_001142.2:p.Ala25Thr