Canonical Allele Identifier: CA2673072297
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v4: 5-1213443-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213443A>G , CM000667.2:g.1213443A>G GRCh38
NC_000005.9:g.1213558A>G , CM000667.1:g.1213558A>G GRCh37
NC_000005.8:g.1266558A>G NCBI36
NG_008282.1:g.16849A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-20A>G MANE Select ENSP00000305302.10:n.664-20A>G
ENST00000304460.10:c.664-20A>G ENSP00000305302.10:n.664-20A>G
ENST00000515652.5:c.572-20A>G ENSP00000425701.1:n.572-20A>G
NM_001003841.2:c.664-20A>G NP_001003841.1:n.664-20A>G
NM_001003841.3:c.664-20A>G MANE Select NP_001003841.1:n.664-20A>G