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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:
CA658822587
Gene: GALT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
555856
ClinVar RCV Id:
RCV000671764
dbSNP Id:
rs1554709099
gnomAD v4:
9-34646609-T-G
MyVariant Identifiers:
chr9:g.34646606T>G (hg19)
chr9:g.34646609T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.34646609T>G , CM000671.2:g.34646609T>G
GRCh38
NC_000009.11:g.34646606T>G , CM000671.1:g.34646606T>G
GRCh37
NC_000009.10:g.34636606T>G
NCBI36
NG_009029.1:g.4972T>G
NG_009029.2:g.5021T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000450095.6:c.-298T>G
ENSP00000401956.2:n.-298T>G
ENST00000605275.1:n.209-68T>G
NM_000155.3:c.-96T>G
NP_000146.2:n.-96T>G
NM_001258332.1:c.-298T>G
NP_001245261.1:n.-298T>G
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