Canonical Allele Identifier: CA443019065
Gene: SLC6A19 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.1213598G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213483G>T , CM000667.2:g.1213483G>T GRCh38
NC_000005.9:g.1213598G>T , CM000667.1:g.1213598G>T GRCh37
NC_000005.8:g.1266598G>T NCBI36
NG_008282.1:g.16889G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.684G>T MANE Select ENSP00000305302.10:p.Thr228=
ENST00000304460.10:c.684G>T ENSP00000305302.10:p.Thr228=
ENST00000515652.5:c.592G>T ENSP00000425701.1:p.Ala198Ser
NM_001003841.2:c.684G>T NP_001003841.1:p.Thr228=
NM_001003841.3:c.684G>T MANE Select NP_001003841.1:p.Thr228=