Canonical Allele Identifier: CA359067318
Gene: SLC6A19 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.1213585A>C (hg19) chr5:g.1213470A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213470A>C , CM000667.2:g.1213470A>C GRCh38
NC_000005.9:g.1213585A>C , CM000667.1:g.1213585A>C GRCh37
NC_000005.8:g.1266585A>C NCBI36
NG_008282.1:g.16876A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.671A>C MANE Select ENSP00000305302.10:p.Tyr224Ser
ENST00000304460.10:c.671A>C ENSP00000305302.10:p.Tyr224Ser
ENST00000515652.5:c.579A>C ENSP00000425701.1:p.Val193=
NM_001003841.2:c.671A>C NP_001003841.1:p.Tyr224Ser
NM_001003841.3:c.671A>C MANE Select NP_001003841.1:p.Tyr224Ser
Search 100 bp 5'
Search 100 bp 3'