Canonical Allele Identifier: CA2529606466
Gene: SLC6A19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213747C>A , CM000667.2:g.1213747C>A GRCh38
NC_000005.9:g.1213862C>A , CM000667.1:g.1213862C>A GRCh37
NC_000005.8:g.1266862C>A NCBI36
NG_008282.1:g.17153C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.774+174C>A MANE Select ENSP00000305302.10:n.774+174C>A
ENST00000304460.10:c.774+174C>A ENSP00000305302.10:n.774+174C>A
ENST00000515652.5:c.682+174C>A ENSP00000425701.1:n.682+174C>A
NM_001003841.2:c.774+174C>A NP_001003841.1:n.774+174C>A
NM_001003841.3:c.774+174C>A MANE Select NP_001003841.1:n.774+174C>A