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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:
CA413437996
Gene: EFNB1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrX:g.68059557T>A (hg19)
chrX:g.68839714T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.68839714T>A , CM000685.2:g.68839714T>A
GRCh38
NC_000023.10:g.68059557T>A , CM000685.1:g.68059557T>A
GRCh37
NC_000023.9:g.67976282T>A
NCBI36
NG_008887.1:g.15718T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000204961.5:c.457T>A
MANE Select
ENSP00000204961.4:p.Cys153Ser
ENST00000204961.4:c.457T>A
ENSP00000204961.4:p.Cys153Ser
NM_004429.4:c.457T>A
NP_004420.1:p.Cys153Ser
NM_004429.5:c.457T>A
MANE Select
NP_004420.1:p.Cys153Ser
Search 100 bp 5'
Search 100 bp 3'