Canonical Allele Identifier: CA2765038700

Gene: SLC6A19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213586G>A , CM000667.2:g.1213586G>A	GRCh38
NC_000005.9:g.1213701G>A , CM000667.1:g.1213701G>A	GRCh37
NC_000005.8:g.1266701G>A	NCBI36
NG_008282.1:g.16992G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.774+13G>A MANE Select	ENSP00000305302.10:n.774+13G>A
ENST00000304460.10:c.774+13G>A	ENSP00000305302.10:n.774+13G>A
ENST00000515652.5:c.682+13G>A	ENSP00000425701.1:n.682+13G>A
NM_001003841.2:c.774+13G>A	NP_001003841.1:n.774+13G>A
NM_001003841.3:c.774+13G>A MANE Select	NP_001003841.1:n.774+13G>A