Canonical Allele Identifier: CA2673072484
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v4: 5-1213893-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213893T>A , CM000667.2:g.1213893T>A GRCh38
NC_000005.9:g.1214008T>A , CM000667.1:g.1214008T>A GRCh37
NC_000005.8:g.1267008T>A NCBI36
NG_008282.1:g.17299T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.775-60T>A MANE Select ENSP00000305302.10:n.775-60T>A
ENST00000304460.10:c.775-60T>A ENSP00000305302.10:n.775-60T>A
ENST00000515652.5:c.683-60T>A ENSP00000425701.1:n.683-60T>A
NM_001003841.2:c.775-60T>A NP_001003841.1:n.775-60T>A
NM_001003841.3:c.775-60T>A MANE Select NP_001003841.1:n.775-60T>A