Canonical Allele Identifier: CA1522520672

Gene: SLC6A19

Linked Data

• dbSNP Id: rs1746124080

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213839T>C , CM000667.2:g.1213839T>C	GRCh38
NC_000005.9:g.1213954T>C , CM000667.1:g.1213954T>C	GRCh37
NC_000005.8:g.1266954T>C	NCBI36
NG_008282.1:g.17245T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.775-114T>C MANE Select	ENSP00000305302.10:n.775-114T>C
ENST00000304460.10:c.775-114T>C	ENSP00000305302.10:n.775-114T>C
ENST00000515652.5:c.683-114T>C	ENSP00000425701.1:n.683-114T>C
NM_001003841.2:c.775-114T>C	NP_001003841.1:n.775-114T>C
NM_001003841.3:c.775-114T>C MANE Select	NP_001003841.1:n.775-114T>C