Canonical Allele Identifier: CA115308
Gene: SLC6A19 HGNC NCBI

Linked Data

ClinVar Variation Id: 2020
dbSNP Id: rs121434347
gnomAD v2: 5-1213632-C-T
gnomAD v3: 5-1213517-C-T
gnomAD v4: 5-1213517-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213517C>T , CM000667.2:g.1213517C>T GRCh38
NC_000005.9:g.1213632C>T , CM000667.1:g.1213632C>T GRCh37
NC_000005.8:g.1266632C>T NCBI36
NG_008282.1:g.16923C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000304460.11:c.718C>T MANE Select ENSP00000305302.10:p.Arg240Ter
ENST00000304460.10:c.718C>T ENSP00000305302.10:p.Arg240Ter
ENST00000515652.5:c.626C>T ENSP00000425701.1:p.Pro209Leu
NM_001003841.2:c.718C>T NP_001003841.1:p.Arg240Ter
NM_001003841.3:c.718C>T MANE Select NP_001003841.1:p.Arg240Ter