Canonical Allele Identifier: CA2578258790

Gene: SLC6A19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213878C>T , CM000667.2:g.1213878C>T	GRCh38
NC_000005.9:g.1213993C>T , CM000667.1:g.1213993C>T	GRCh37
NC_000005.8:g.1266993C>T	NCBI36
NG_008282.1:g.17284C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.775-75C>T MANE Select	ENSP00000305302.10:n.775-75C>T
ENST00000304460.10:c.775-75C>T	ENSP00000305302.10:n.775-75C>T
ENST00000515652.5:c.683-75C>T	ENSP00000425701.1:n.683-75C>T
NM_001003841.2:c.775-75C>T	NP_001003841.1:n.775-75C>T
NM_001003841.3:c.775-75C>T MANE Select	NP_001003841.1:n.775-75C>T