Canonical Allele Identifier: CA2673072369
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v4: 5-1213673-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213673C>T , CM000667.2:g.1213673C>T GRCh38
NC_000005.9:g.1213788C>T , CM000667.1:g.1213788C>T GRCh37
NC_000005.8:g.1266788C>T NCBI36
NG_008282.1:g.17079C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.774+100C>T MANE Select ENSP00000305302.10:n.774+100C>T
ENST00000304460.10:c.774+100C>T ENSP00000305302.10:n.774+100C>T
ENST00000515652.5:c.682+100C>T ENSP00000425701.1:n.682+100C>T
NM_001003841.2:c.774+100C>T NP_001003841.1:n.774+100C>T
NM_001003841.3:c.774+100C>T MANE Select NP_001003841.1:n.774+100C>T
Search 100 bp 5'
Search 100 bp 3'