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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:
CA387790599
Gene: KL
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr13:g.33628052T>C (hg19)
chr13:g.33053915T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.33053915T>C , CM000675.2:g.33053915T>C
GRCh38
NC_000013.10:g.33628052T>C , CM000675.1:g.33628052T>C
GRCh37
NC_000013.9:g.32526052T>C
NCBI36
NG_011485.1:g.42482T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000380099.4:c.968T>C
MANE Select
ENSP00000369442.3:p.Val323Ala
ENST00000380099.3:c.968T>C
ENSP00000369442.3:p.Val323Ala
ENST00000487852.1:n.976T>C
NM_004795.3:c.968T>C
NP_004786.2:p.Val323Ala
XM_006719895.1:c.47T>C
XP_006719958.1:p.Val16Ala
XM_006719895.2:c.47T>C
XP_006719958.1:p.Val16Ala
NM_004795.4:c.968T>C
MANE Select
NP_004786.2:p.Val323Ala
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