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: CA1072492445

Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1746096721

gnomAD v3: 5-1213225-TGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCCGTAGGCCTGGCCCCCATTCCCCACATGCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGTCCC-T

gnomAD v4: 5-1213225-TGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCCGTAGGCCTGGCCCCCATTCCCCACATGCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGTCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213240_1213465del , CM000667.2:g.1213240_1213465del	GRCh38
NC_000005.9:g.1213355_1213580del , CM000667.1:g.1213355_1213580del	GRCh37
NC_000005.8:g.1266355_1266580del	NCBI36
NG_008282.1:g.16646_16871del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304460.11:c.664-223_666del
ENST00000304460.10:c.664-223_666del
ENST00000515652.5:c.572-223_574del
NM_001003841.2:c.664-223_666del
NM_001003841.3:c.664-223_666del

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