Canonical Allele Identifier: CA557032732
Gene: SLC25A4 HGNC NCBI

Linked Data

dbSNP Id: rs1205382905
gnomAD v2: 4-186064642-G-C
gnomAD v4: 4-185143488-G-C
MyVariant Identifiers: chr4:g.186064642G>C (hg19) chr4:g.185143488G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185143488G>C , CM000666.2:g.185143488G>C GRCh38
NC_000004.11:g.186064642G>C , CM000666.1:g.186064642G>C GRCh37
NC_000004.10:g.186301636G>C NCBI36
NG_013001.1:g.5226G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.111+5G>C MANE Select ENSP00000281456.5:n.111+5G>C
ENST00000281456.10:c.111+5G>C ENSP00000281456.5:n.111+5G>C
ENST00000491736.1:c.111+5G>C ENSP00000476711.1:n.111+5G>C
NM_001151.3:c.111+5G>C NP_001142.2:n.111+5G>C
NM_001151.4:c.111+5G>C MANE Select NP_001142.2:n.111+5G>C
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