Canonical Allele Identifier: CA1072492245
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1213126-A-G
gnomAD v4: 5-1213126-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213126A>G , CM000667.2:g.1213126A>G GRCh38
NC_000005.9:g.1213241A>G , CM000667.1:g.1213241A>G GRCh37
NC_000005.8:g.1266241A>G NCBI36
NG_008282.1:g.16532A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-337A>G MANE Select ENSP00000305302.10:n.664-337A>G
ENST00000304460.10:c.664-337A>G ENSP00000305302.10:n.664-337A>G
ENST00000515652.5:c.572-337A>G ENSP00000425701.1:n.572-337A>G
NM_001003841.2:c.664-337A>G NP_001003841.1:n.664-337A>G
NM_001003841.3:c.664-337A>G MANE Select NP_001003841.1:n.664-337A>G
Search 100 bp 5'
Search 100 bp 3'