Canonical Allele Identifier: CA1072493136

Gene: SLC6A19

Linked Data

• dbSNP Id: rs1579513737
• gnomAD v3: 5-1213426-A-C
• gnomAD v4: 5-1213426-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213426A>C , CM000667.2:g.1213426A>C	GRCh38
NC_000005.9:g.1213541A>C , CM000667.1:g.1213541A>C	GRCh37
NC_000005.8:g.1266541A>C	NCBI36
NG_008282.1:g.16832A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304460.11:c.664-37A>C MANE Select	ENSP00000305302.10:n.664-37A>C
ENST00000304460.10:c.664-37A>C	ENSP00000305302.10:n.664-37A>C
ENST00000515652.5:c.572-37A>C	ENSP00000425701.1:n.572-37A>C
NM_001003841.2:c.664-37A>C	NP_001003841.1:n.664-37A>C
NM_001003841.3:c.664-37A>C MANE Select	NP_001003841.1:n.664-37A>C