Canonical Allele Identifier: CA1072491815

Gene: SLC6A19

Linked Data

• dbSNP Id: rs1746085528
• gnomAD v3: 5-1212948-C-T
• gnomAD v4: 5-1212948-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1212948C>T , CM000667.2:g.1212948C>T	GRCh38
NC_000005.9:g.1213063C>T , CM000667.1:g.1213063C>T	GRCh37
NC_000005.8:g.1266063C>T	NCBI36
NG_008282.1:g.16354C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.663+464C>T MANE Select	ENSP00000305302.10:n.663+464C>T
ENST00000304460.10:c.663+464C>T	ENSP00000305302.10:n.663+464C>T
ENST00000515652.5:c.571+464C>T	ENSP00000425701.1:n.571+464C>T
NM_001003841.2:c.663+464C>T	NP_001003841.1:n.663+464C>T
NM_001003841.3:c.663+464C>T MANE Select	NP_001003841.1:n.663+464C>T