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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:
CA381632886
Gene: GAL
HGNC
NCBI
Linked Data
COSMIC:
COSM690282
MyVariant Identifiers:
chr11:g.68453099G>T (hg19)
chr11:g.68685631G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.68685631G>T , CM000673.2:g.68685631G>T
GRCh38
NC_000011.9:g.68453099G>T , CM000673.1:g.68453099G>T
GRCh37
NC_000011.8:g.68209675G>T
NCBI36
NG_052785.1:g.6157G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000265643.4:c.119G>T
MANE Select
ENSP00000265643.3:p.Gly40Val
ENST00000265643.3:c.119G>T
ENSP00000265643.3:p.Gly40Val
NM_015973.3:c.119G>T
NP_057057.2:p.Gly40Val
NM_015973.4:c.119G>T
NP_057057.2:p.Gly40Val
XR_001748281.1:n.230+2210C>A
NM_015973.5:c.119G>T
MANE Select
NP_057057.2:p.Gly40Val
Search 100 bp 5'
Search 100 bp 3'