Canonical Allele Identifier: CA1072493000

Gene: SLC6A19

Linked Data

• dbSNP Id: rs1579513640
• gnomAD v3: 5-1213366-A-C
• gnomAD v4: 5-1213366-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213366A>C , CM000667.2:g.1213366A>C	GRCh38
NC_000005.9:g.1213481A>C , CM000667.1:g.1213481A>C	GRCh37
NC_000005.8:g.1266481A>C	NCBI36
NG_008282.1:g.16772A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-97A>C MANE Select	ENSP00000305302.10:n.664-97A>C
ENST00000304460.10:c.664-97A>C	ENSP00000305302.10:n.664-97A>C
ENST00000515652.5:c.572-97A>C	ENSP00000425701.1:n.572-97A>C
NM_001003841.2:c.664-97A>C	NP_001003841.1:n.664-97A>C
NM_001003841.3:c.664-97A>C MANE Select	NP_001003841.1:n.664-97A>C