Canonical Allele Identifier: CA359067418

Gene: SLC6A19

Linked Data

• MyVariant Identifiers: chr5:g.1213603C>T (hg19) ; chr5:g.1213488C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213488C>T , CM000667.2:g.1213488C>T	GRCh38
NC_000005.9:g.1213603C>T , CM000667.1:g.1213603C>T	GRCh37
NC_000005.8:g.1266603C>T	NCBI36
NG_008282.1:g.16894C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.689C>T MANE Select	ENSP00000305302.10:p.Pro230Leu
ENST00000304460.10:c.689C>T	ENSP00000305302.10:p.Pro230Leu
ENST00000515652.5:c.597C>T	ENSP00000425701.1:p.Ala199=
NM_001003841.2:c.689C>T	NP_001003841.1:p.Pro230Leu
NM_001003841.3:c.689C>T MANE Select	NP_001003841.1:p.Pro230Leu