Canonical Allele Identifier: CA557557191
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1561165431
gnomAD v2: 5-1213153-T-G
gnomAD v3: 5-1213038-T-G
gnomAD v4: 5-1213038-T-G
MyVariant Identifiers: chr5:g.1213153_1213200delinsGCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTC (hg19) chr5:g.1213038_1213085delinsGCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213038T>G , CM000667.2:g.1213038T>G GRCh38
NC_000005.9:g.1213153T>G , CM000667.1:g.1213153T>G GRCh37
NC_000005.8:g.1266153T>G NCBI36
NG_008282.1:g.16444T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-425T>G MANE Select ENSP00000305302.10:n.664-425T>G
ENST00000304460.10:c.664-425T>G ENSP00000305302.10:n.664-425T>G
ENST00000515652.5:c.572-425T>G ENSP00000425701.1:n.572-425T>G
NM_001003841.2:c.664-425T>G NP_001003841.1:n.664-425T>G
NM_001003841.3:c.664-425T>G MANE Select NP_001003841.1:n.664-425T>G
Search 100 bp 5'
Search 100 bp 3'