Canonical Allele Identifier: CA127987
Gene: SLC25A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 18248
ClinVar RCV Id: RCV000019910
dbSNP Id: rs28999114

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185144963A>G , CM000666.2:g.185144963A>G GRCh38
NC_000004.11:g.186066117A>G , CM000666.1:g.186066117A>G GRCh37
NC_000004.10:g.186303111A>G NCBI36
NG_013001.1:g.6701A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.311A>G MANE Select ENSP00000281456.5:p.Asp104Gly
ENST00000281456.10:c.311A>G ENSP00000281456.5:p.Asp104Gly
ENST00000491736.1:c.311A>G ENSP00000476711.1:p.Asp104Gly
NM_001151.3:c.311A>G NP_001142.2:p.Asp104Gly
NM_001151.4:c.311A>G MANE Select NP_001142.2:p.Asp104Gly