Canonical Allele Identifier: CA2673072270

Gene: SLC6A19

Linked Data

• gnomAD v4: 5-1213405-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213405C>G , CM000667.2:g.1213405C>G	GRCh38
NC_000005.9:g.1213520C>G , CM000667.1:g.1213520C>G	GRCh37
NC_000005.8:g.1266520C>G	NCBI36
NG_008282.1:g.16811C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-58C>G MANE Select	ENSP00000305302.10:n.664-58C>G
ENST00000304460.10:c.664-58C>G	ENSP00000305302.10:n.664-58C>G
ENST00000515652.5:c.572-58C>G	ENSP00000425701.1:n.572-58C>G
NM_001003841.2:c.664-58C>G	NP_001003841.1:n.664-58C>G
NM_001003841.3:c.664-58C>G MANE Select	NP_001003841.1:n.664-58C>G