Canonical Allele Identifier: CA359067562

Gene: SLC6A19

Linked Data

• MyVariant Identifiers: chr5:g.1213629A>T (hg19) ; chr5:g.1213514A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213514A>T , CM000667.2:g.1213514A>T	GRCh38
NC_000005.9:g.1213629A>T , CM000667.1:g.1213629A>T	GRCh37
NC_000005.8:g.1266629A>T	NCBI36
NG_008282.1:g.16920A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.715A>T MANE Select	ENSP00000305302.10:p.Ile239Phe
ENST00000304460.10:c.715A>T	ENSP00000305302.10:p.Ile239Phe
ENST00000515652.5:c.623A>T	ENSP00000425701.1:p.His208Leu
NM_001003841.2:c.715A>T	NP_001003841.1:p.Ile239Phe
NM_001003841.3:c.715A>T MANE Select	NP_001003841.1:p.Ile239Phe