Canonical Allele Identifier: CA802929594
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1217364060
gnomAD v4: 5-1212248-T-G
MyVariant Identifiers: chr5:g.1212363T>G (hg19) chr5:g.1212248T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1212248T>G , CM000667.2:g.1212248T>G GRCh38
NC_000005.9:g.1212363T>G , CM000667.1:g.1212363T>G GRCh37
NC_000005.8:g.1265363T>G NCBI36
NG_008282.1:g.15654T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000304460.11:c.482-55T>G MANE Select ENSP00000305302.10:n.482-55T>G
ENST00000304460.10:c.482-55T>G ENSP00000305302.10:n.482-55T>G
ENST00000515652.5:c.390-55T>G ENSP00000425701.1:n.390-55T>G
NM_001003841.2:c.482-55T>G NP_001003841.1:n.482-55T>G
NM_001003841.3:c.482-55T>G MANE Select NP_001003841.1:n.482-55T>G
Search 100 bp 5'
Search 100 bp 3'