Canonical Allele Identifier: CA443019052

Gene: SLC6A19

Linked Data

• MyVariant Identifiers: chr5:g.1213580C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213465C>G , CM000667.2:g.1213465C>G	GRCh38
NC_000005.9:g.1213580C>G , CM000667.1:g.1213580C>G	GRCh37
NC_000005.8:g.1266580C>G	NCBI36
NG_008282.1:g.16871C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.666C>G MANE Select	ENSP00000305302.10:p.Ala222=
ENST00000304460.10:c.666C>G	ENSP00000305302.10:p.Ala222=
ENST00000515652.5:c.574C>G	ENSP00000425701.1:p.Arg192Gly
NM_001003841.2:c.666C>G	NP_001003841.1:p.Ala222=
NM_001003841.3:c.666C>G MANE Select	NP_001003841.1:p.Ala222=