Canonical Allele Identifier: CA359067703

Gene: SLC6A19

Linked Data

• MyVariant Identifiers: chr5:g.1213657C>G (hg19) ; chr5:g.1213542C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213542C>G , CM000667.2:g.1213542C>G	GRCh38
NC_000005.9:g.1213657C>G , CM000667.1:g.1213657C>G	GRCh37
NC_000005.8:g.1266657C>G	NCBI36
NG_008282.1:g.16948C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.743C>G MANE Select	ENSP00000305302.10:p.Thr248Ser
ENST00000304460.10:c.743C>G	ENSP00000305302.10:p.Thr248Ser
ENST00000515652.5:c.651C>G	ENSP00000425701.1:p.His217Gln
NM_001003841.2:c.743C>G	NP_001003841.1:p.Thr248Ser
NM_001003841.3:c.743C>G MANE Select	NP_001003841.1:p.Thr248Ser