Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA1123156589

Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1821106796

gnomAD v3: 9-34646614-G-A

gnomAD v4: 9-34646614-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34646614G>A , CM000671.2:g.34646614G>A	GRCh38
NC_000009.11:g.34646611G>A , CM000671.1:g.34646611G>A	GRCh37
NC_000009.10:g.34636611G>A	NCBI36
NG_009029.1:g.4977G>A
NG_009029.2:g.5026G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000450095.6:c.-293G>A	ENSP00000401956.2:n.-293G>A
ENST00000605275.1:n.209-63G>A
NM_000155.3:c.-91G>A	NP_000146.2:n.-91G>A
NM_001258332.1:c.-293G>A	NP_001245261.1:n.-293G>A

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