×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA358896182
Gene: SLC25A4
HGNC
NCBI
Linked Data
gnomAD v4:
4-185144888-T-C
MyVariant Identifiers:
chr4:g.186066042T>C (hg19)
chr4:g.185144888T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.185144888T>C , CM000666.2:g.185144888T>C
GRCh38
NC_000004.11:g.186066042T>C , CM000666.1:g.186066042T>C
GRCh37
NC_000004.10:g.186303036T>C
NCBI36
NG_013001.1:g.6626T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000281456.11:c.236T>C
MANE Select
ENSP00000281456.5:p.Ile79Thr
ENST00000281456.10:c.236T>C
ENSP00000281456.5:p.Ile79Thr
ENST00000491736.1:c.236T>C
ENSP00000476711.1:p.Ile79Thr
NM_001151.3:c.236T>C
NP_001142.2:p.Ile79Thr
NM_001151.4:c.236T>C
MANE Select
NP_001142.2:p.Ile79Thr
Search 100 bp 5'
Search 100 bp 3'