Canonical Allele Identifier: CA802930122
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1227027333
gnomAD v3: 5-1213039-C-A
gnomAD v4: 5-1213039-C-A
MyVariant Identifiers: chr5:g.1213154C>A (hg19) chr5:g.1213039C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213039C>A , CM000667.2:g.1213039C>A GRCh38
NC_000005.9:g.1213154C>A , CM000667.1:g.1213154C>A GRCh37
NC_000005.8:g.1266154C>A NCBI36
NG_008282.1:g.16445C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-424C>A MANE Select ENSP00000305302.10:n.664-424C>A
ENST00000304460.10:c.664-424C>A ENSP00000305302.10:n.664-424C>A
ENST00000515652.5:c.572-424C>A ENSP00000425701.1:n.572-424C>A
NM_001003841.2:c.664-424C>A NP_001003841.1:n.664-424C>A
NM_001003841.3:c.664-424C>A MANE Select NP_001003841.1:n.664-424C>A
Search 100 bp 5'
Search 100 bp 3'