Canonical Allele Identifier: CA2541030076
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v4: 5-1213865-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213865C>T , CM000667.2:g.1213865C>T GRCh38
NC_000005.9:g.1213980C>T , CM000667.1:g.1213980C>T GRCh37
NC_000005.8:g.1266980C>T NCBI36
NG_008282.1:g.17271C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.775-88C>T MANE Select ENSP00000305302.10:n.775-88C>T
ENST00000304460.10:c.775-88C>T ENSP00000305302.10:n.775-88C>T
ENST00000515652.5:c.683-88C>T ENSP00000425701.1:n.683-88C>T
NM_001003841.2:c.775-88C>T NP_001003841.1:n.775-88C>T
NM_001003841.3:c.775-88C>T MANE Select NP_001003841.1:n.775-88C>T