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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:
CA1240109510
Gene: EMILIN1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.27084866T= , CM000664.2:g.27084866T=
GRCh38
NC_000002.11:g.27307734T= , CM000664.1:g.27307734T=
GRCh37
NC_000002.10:g.27161238T=
NCBI36
NG_012199.1:g.3124T=
NG_046849.1:g.11300T=
NG_012199.2:g.3124T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000380320.9:c.2558-125T=
MANE Select
ENSP00000369677.4:n.2558-125T=
ENST00000380320.8:c.2558-125T=
ENSP00000369677.4:n.2558-125T=
ENST00000433140.1:c.550-125T=
NM_007046.3:c.2558-125T=
NP_008977.1:n.2558-125T=
XM_006711928.2:c.2558-125T=
XP_006711991.1:n.2558-125T=
NM_007046.4:c.2558-125T=
MANE Select
NP_008977.1:n.2558-125T=
Search 100 bp 5'
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