Canonical Allele Identifier: CA127988

Gene: SLC25A4

Linked Data

• ClinVar Variation Id: 18249
• ClinVar RCV Id: RCV000019911 ; RCV000414338 ; RCV000626767 ; RCV000626768 ; RCV000626769 ; RCV001198599
• dbSNP Id: rs121912683
• gnomAD v2: 4-186066174-C-A
• gnomAD v3: 4-185145020-C-A
• gnomAD v4: 4-185145020-C-A
• MyVariant Identifiers: chr4:g.186066174C>A (hg19) ; chr4:g.185145020C>A (hg38)
• PubMed: PMID:16155110

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.185145020C>A , CM000666.2:g.185145020C>A	GRCh38
NC_000004.11:g.186066174C>A , CM000666.1:g.186066174C>A	GRCh37
NC_000004.10:g.186303168C>A	NCBI36
NG_013001.1:g.6758C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281456.11:c.368C>A MANE Select	ENSP00000281456.5:p.Ala123Asp
ENST00000281456.10:c.368C>A	ENSP00000281456.5:p.Ala123Asp
ENST00000491736.1:c.368C>A	ENSP00000476711.1:p.Ala123Asp
NM_001151.3:c.368C>A	NP_001142.2:p.Ala123Asp
NM_001151.4:c.368C>A MANE Select	NP_001142.2:p.Ala123Asp