Canonical Allele Identifier: CA2765038618
Gene: SLC6A19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1212969G>A , CM000667.2:g.1212969G>A GRCh38
NC_000005.9:g.1213084G>A , CM000667.1:g.1213084G>A GRCh37
NC_000005.8:g.1266084G>A NCBI36
NG_008282.1:g.16375G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.663+485G>A MANE Select ENSP00000305302.10:n.663+485G>A
ENST00000304460.10:c.663+485G>A ENSP00000305302.10:n.663+485G>A
ENST00000515652.5:c.571+485G>A ENSP00000425701.1:n.571+485G>A
NM_001003841.2:c.663+485G>A NP_001003841.1:n.663+485G>A
NM_001003841.3:c.663+485G>A MANE Select NP_001003841.1:n.663+485G>A