Canonical Allele Identifier: CA2578258779

Gene: SLC6A19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213662A>T , CM000667.2:g.1213662A>T	GRCh38
NC_000005.9:g.1213777A>T , CM000667.1:g.1213777A>T	GRCh37
NC_000005.8:g.1266777A>T	NCBI36
NG_008282.1:g.17068A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.774+89A>T MANE Select	ENSP00000305302.10:n.774+89A>T
ENST00000304460.10:c.774+89A>T	ENSP00000305302.10:n.774+89A>T
ENST00000515652.5:c.682+89A>T	ENSP00000425701.1:n.682+89A>T
NM_001003841.2:c.774+89A>T	NP_001003841.1:n.774+89A>T
NM_001003841.3:c.774+89A>T MANE Select	NP_001003841.1:n.774+89A>T