Canonical Allele Identifier: CA802931094

Gene: SLC6A19

Linked Data

• dbSNP Id: rs1374896180
• MyVariant Identifiers: chr5:g.1214019C>T (hg19) ; chr5:g.1213904C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213904C>T , CM000667.2:g.1213904C>T	GRCh38
NC_000005.9:g.1214019C>T , CM000667.1:g.1214019C>T	GRCh37
NC_000005.8:g.1267019C>T	NCBI36
NG_008282.1:g.17310C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.775-49C>T MANE Select	ENSP00000305302.10:n.775-49C>T
ENST00000304460.10:c.775-49C>T	ENSP00000305302.10:n.775-49C>T
ENST00000515652.5:c.683-49C>T	ENSP00000425701.1:n.683-49C>T
NM_001003841.2:c.775-49C>T	NP_001003841.1:n.775-49C>T
NM_001003841.3:c.775-49C>T MANE Select	NP_001003841.1:n.775-49C>T