Canonical Allele Identifier: CA443019196

Gene: SLC6A19

Linked Data

• MyVariant Identifiers: chr5:g.1213664C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213549C>G , CM000667.2:g.1213549C>G	GRCh38
NC_000005.9:g.1213664C>G , CM000667.1:g.1213664C>G	GRCh37
NC_000005.8:g.1266664C>G	NCBI36
NG_008282.1:g.16955C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.750C>G MANE Select	ENSP00000305302.10:p.Gly250=
ENST00000304460.10:c.750C>G	ENSP00000305302.10:p.Gly250=
ENST00000515652.5:c.658C>G	ENSP00000425701.1:p.His220Asp
NM_001003841.2:c.750C>G	NP_001003841.1:p.Gly250=
NM_001003841.3:c.750C>G MANE Select	NP_001003841.1:p.Gly250=