Canonical Allele Identifier: CA2578258793

Gene: SLC6A19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213884A>G , CM000667.2:g.1213884A>G	GRCh38
NC_000005.9:g.1213999A>G , CM000667.1:g.1213999A>G	GRCh37
NC_000005.8:g.1266999A>G	NCBI36
NG_008282.1:g.17290A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.775-69A>G MANE Select	ENSP00000305302.10:n.775-69A>G
ENST00000304460.10:c.775-69A>G	ENSP00000305302.10:n.775-69A>G
ENST00000515652.5:c.683-69A>G	ENSP00000425701.1:n.683-69A>G
NM_001003841.2:c.775-69A>G	NP_001003841.1:n.775-69A>G
NM_001003841.3:c.775-69A>G MANE Select	NP_001003841.1:n.775-69A>G