Canonical Allele Identifier: CA442614632
Gene: SLC25A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2845114
ClinVar RCV Id: RCV003719352
MyVariant Identifiers: chr4:g.186064553A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185143399A>G , CM000666.2:g.185143399A>G GRCh38
NC_000004.11:g.186064553A>G , CM000666.1:g.186064553A>G GRCh37
NC_000004.10:g.186301547A>G NCBI36
NG_013001.1:g.5137A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.27A>G MANE Select ENSP00000281456.5:p.Leu9=
ENST00000281456.10:c.27A>G ENSP00000281456.5:p.Leu9=
ENST00000491736.1:c.27A>G ENSP00000476711.1:p.Leu9=
NM_001151.3:c.27A>G NP_001142.2:p.Leu9=
NM_001151.4:c.27A>G MANE Select NP_001142.2:p.Leu9=