Canonical Allele Identifier: CA802930062
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1198673728
gnomAD v3: 5-1212935-C-G
gnomAD v4: 5-1212935-C-G
MyVariant Identifiers: chr5:g.1213050C>G (hg19) chr5:g.1212935C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1212935C>G , CM000667.2:g.1212935C>G GRCh38
NC_000005.9:g.1213050C>G , CM000667.1:g.1213050C>G GRCh37
NC_000005.8:g.1266050C>G NCBI36
NG_008282.1:g.16341C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.663+451C>G MANE Select ENSP00000305302.10:n.663+451C>G
ENST00000304460.10:c.663+451C>G ENSP00000305302.10:n.663+451C>G
ENST00000515652.5:c.571+451C>G ENSP00000425701.1:n.571+451C>G
NM_001003841.2:c.663+451C>G NP_001003841.1:n.663+451C>G
NM_001003841.3:c.663+451C>G MANE Select NP_001003841.1:n.663+451C>G
Search 100 bp 5'
Search 100 bp 3'