Canonical Allele Identifier: CA3129224920
Community Standard Title: NM_001003841.3(SLC6A19):c.65A= (p.Glu22=)
Gene: SLC6A19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1201715A= , CM000667.2:g.1201715A= GRCh38
NC_000005.9:g.1201830A= , CM000667.1:g.1201830A= GRCh37
NC_000005.8:g.1254830A= NCBI36
NG_008282.1:g.5121A=

Transcript Alleles

HGVS Amino-acid Change
NM_001003841.3:c.65A= MANE Select NP_001003841.1:p.Glu22=
ENST00000304460.11:c.65A= MANE Select ENSP00000305302.10:p.Glu22=
NM_001003841.2:c.65A= NP_001003841.1:p.Glu22=
ENST00000304460.10:c.65A= ENSP00000305302.10:p.Glu22=
ENST00000515652.5:c.65A= ENSP00000425701.1:p.Glu22=