Canonical Allele Identifier: CA802930115
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs558958126
gnomAD v3: 5-1213026-A-C
gnomAD v4: 5-1213026-A-C
MyVariant Identifiers: chr5:g.1213141A>C (hg19) chr5:g.1213026A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213026A>C , CM000667.2:g.1213026A>C GRCh38
NC_000005.9:g.1213141A>C , CM000667.1:g.1213141A>C GRCh37
NC_000005.8:g.1266141A>C NCBI36
NG_008282.1:g.16432A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-437A>C MANE Select ENSP00000305302.10:n.664-437A>C
ENST00000304460.10:c.664-437A>C ENSP00000305302.10:n.664-437A>C
ENST00000515652.5:c.572-437A>C ENSP00000425701.1:n.572-437A>C
NM_001003841.2:c.664-437A>C NP_001003841.1:n.664-437A>C
NM_001003841.3:c.664-437A>C MANE Select NP_001003841.1:n.664-437A>C
Search 100 bp 5'
Search 100 bp 3'