Canonical Allele Identifier: CA359067671
Gene: SLC6A19 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.1213650G>A (hg19) chr5:g.1213535G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213535G>A , CM000667.2:g.1213535G>A GRCh38
NC_000005.9:g.1213650G>A , CM000667.1:g.1213650G>A GRCh37
NC_000005.8:g.1266650G>A NCBI36
NG_008282.1:g.16941G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.736G>A MANE Select ENSP00000305302.10:p.Gly246Ser
ENST00000304460.10:c.736G>A ENSP00000305302.10:p.Gly246Ser
ENST00000515652.5:c.644G>A ENSP00000425701.1:p.Gly215Glu
NM_001003841.2:c.736G>A NP_001003841.1:p.Gly246Ser
NM_001003841.3:c.736G>A MANE Select NP_001003841.1:p.Gly246Ser
Search 100 bp 5'
Search 100 bp 3'