Canonical Allele Identifier: CA358896174
Gene: SLC25A4 HGNC NCBI

Linked Data

dbSNP Id: rs1734409591
gnomAD v3: 4-185144884-G-A
gnomAD v4: 4-185144884-G-A
MyVariant Identifiers: chr4:g.186066038G>A (hg19) chr4:g.185144884G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185144884G>A , CM000666.2:g.185144884G>A GRCh38
NC_000004.11:g.186066038G>A , CM000666.1:g.186066038G>A GRCh37
NC_000004.10:g.186303032G>A NCBI36
NG_013001.1:g.6622G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.232G>A MANE Select ENSP00000281456.5:p.Val78Met
ENST00000281456.10:c.232G>A ENSP00000281456.5:p.Val78Met
ENST00000491736.1:c.232G>A ENSP00000476711.1:p.Val78Met
NM_001151.3:c.232G>A NP_001142.2:p.Val78Met
NM_001151.4:c.232G>A MANE Select NP_001142.2:p.Val78Met
Search 100 bp 5'
Search 100 bp 3'