Canonical Allele Identifier: CA2572771857
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v4: 5-1213429-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213429T>G , CM000667.2:g.1213429T>G GRCh38
NC_000005.9:g.1213544T>G , CM000667.1:g.1213544T>G GRCh37
NC_000005.8:g.1266544T>G NCBI36
NG_008282.1:g.16835T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-34T>G MANE Select ENSP00000305302.10:n.664-34T>G
ENST00000304460.10:c.664-34T>G ENSP00000305302.10:n.664-34T>G
ENST00000515652.5:c.572-34T>G ENSP00000425701.1:n.572-34T>G
NM_001003841.2:c.664-34T>G NP_001003841.1:n.664-34T>G
NM_001003841.3:c.664-34T>G MANE Select NP_001003841.1:n.664-34T>G