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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
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Canonical Allele Identifier:
CA486973681
Gene: SIX6
HGNC
NCBI
C14orf39
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr14:g.60976512A>T (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.60509794A>T , CM000676.2:g.60509794A>T
GRCh38
NC_000014.8:g.60976512A>T , CM000676.1:g.60976512A>T
GRCh37
NC_000014.7:g.60046265A>T
NCBI36
NG_008203.1:g.5575A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000327720.6:c.396A>T
(SIX6)
MANE Select
ENSP00000328596.5:p.Thr132=
ENST00000327720.5:c.396A>T
(SIX6)
ENSP00000328596.5:p.Thr132=
ENST00000556799.1:c.-144+5601T>A
(C14orf39)
ENSP00000451441.1:n.-144+5601T>A
NM_007374.2:c.396A>T
(SIX6)
NP_031400.2:p.Thr132=
NM_007374.3:c.396A>T
(SIX6)
MANE Select
NP_031400.2:p.Thr132=
Search 100 bp 5'
Search 100 bp 3'