Canonical Allele Identifier: CA2590900261
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs2126505238
gnomAD v3: 5-1213833-C-G
gnomAD v4: 5-1213833-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213833C>G , CM000667.2:g.1213833C>G GRCh38
NC_000005.9:g.1213948C>G , CM000667.1:g.1213948C>G GRCh37
NC_000005.8:g.1266948C>G NCBI36
NG_008282.1:g.17239C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.775-120C>G MANE Select ENSP00000305302.10:n.775-120C>G
ENST00000304460.10:c.775-120C>G ENSP00000305302.10:n.775-120C>G
ENST00000515652.5:c.683-120C>G ENSP00000425701.1:n.683-120C>G
NM_001003841.2:c.775-120C>G NP_001003841.1:n.775-120C>G
NM_001003841.3:c.775-120C>G MANE Select NP_001003841.1:n.775-120C>G
Search 100 bp 5'
Search 100 bp 3'