Canonical Allele Identifier: CA3156431

Gene: SLC25A4

Linked Data

• ClinVar Variation Id: 1308558
• ClinVar RCV Id: RCV001763470
• dbSNP Id: rs201501984
• ExAC: 4:186065948 G / C
• gnomAD v2: 4-186065948-G-C
• gnomAD v3: 4-185144794-G-C
• gnomAD v4: 4-185144794-G-C
• MyVariant Identifiers: chr4:g.186065948G>C (hg19) ; chr4:g.185144794G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.185144794G>C , CM000666.2:g.185144794G>C	GRCh38
NC_000004.11:g.186065948G>C , CM000666.1:g.186065948G>C	GRCh37
NC_000004.10:g.186302942G>C	NCBI36
NG_013001.1:g.6532G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281456.11:c.142G>C MANE Select	ENSP00000281456.5:p.Glu48Gln
ENST00000281456.10:c.142G>C	ENSP00000281456.5:p.Glu48Gln
ENST00000491736.1:c.142G>C	ENSP00000476711.1:p.Glu48Gln
NM_001151.3:c.142G>C	NP_001142.2:p.Glu48Gln
NM_001151.4:c.142G>C MANE Select	NP_001142.2:p.Glu48Gln