Canonical Allele Identifier: CA442615218
Gene: SLC25A4 HGNC NCBI

Linked Data

dbSNP Id: rs1185164487
gnomAD v2: 4-186066040-G-C
gnomAD v4: 4-185144886-G-C
MyVariant Identifiers: chr4:g.186066040G>C (hg19) chr4:g.185144886G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185144886G>C , CM000666.2:g.185144886G>C GRCh38
NC_000004.11:g.186066040G>C , CM000666.1:g.186066040G>C GRCh37
NC_000004.10:g.186303034G>C NCBI36
NG_013001.1:g.6624G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.234G>C MANE Select ENSP00000281456.5:p.Val78=
ENST00000281456.10:c.234G>C ENSP00000281456.5:p.Val78=
ENST00000491736.1:c.234G>C ENSP00000476711.1:p.Val78=
NM_001151.3:c.234G>C NP_001142.2:p.Val78=
NM_001151.4:c.234G>C MANE Select NP_001142.2:p.Val78=
Search 100 bp 5'
Search 100 bp 3'