Canonical Allele Identifier: CA359067379

Gene: SLC6A19

Linked Data

• MyVariant Identifiers: chr5:g.1213594C>G (hg19) ; chr5:g.1213479C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213479C>G , CM000667.2:g.1213479C>G	GRCh38
NC_000005.9:g.1213594C>G , CM000667.1:g.1213594C>G	GRCh37
NC_000005.8:g.1266594C>G	NCBI36
NG_008282.1:g.16885C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.680C>G MANE Select	ENSP00000305302.10:p.Ser227Cys
ENST00000304460.10:c.680C>G	ENSP00000305302.10:p.Ser227Cys
ENST00000515652.5:c.588C>G	ENSP00000425701.1:p.Leu196=
NM_001003841.2:c.680C>G	NP_001003841.1:p.Ser227Cys
NM_001003841.3:c.680C>G MANE Select	NP_001003841.1:p.Ser227Cys