Canonical Allele Identifier: CA112941401

Gene: SLC6A19

Linked Data

• dbSNP Id: rs751918587
• MyVariant Identifiers: chr5:g.1213586C>A (hg19) ; chr5:g.1213471C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213471C>A , CM000667.2:g.1213471C>A	GRCh38
NC_000005.9:g.1213586C>A , CM000667.1:g.1213586C>A	GRCh37
NC_000005.8:g.1266586C>A	NCBI36
NG_008282.1:g.16877C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.672C>A MANE Select	ENSP00000305302.10:p.Tyr224Ter
ENST00000304460.10:c.672C>A	ENSP00000305302.10:p.Tyr224Ter
ENST00000515652.5:c.580C>A	ENSP00000425701.1:p.His194Asn
NM_001003841.2:c.672C>A	NP_001003841.1:p.Tyr224Ter
NM_001003841.3:c.672C>A MANE Select	NP_001003841.1:p.Tyr224Ter