Canonical Allele Identifier: CA359067824
Gene: SLC6A19 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213571A>C , CM000667.2:g.1213571A>C GRCh38
NC_000005.9:g.1213686A>C , CM000667.1:g.1213686A>C GRCh37
NC_000005.8:g.1266686A>C NCBI36
NG_008282.1:g.16977A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.772A>C MANE Select ENSP00000305302.10:p.Asn258His
ENST00000304460.10:c.772A>C ENSP00000305302.10:p.Asn258His
ENST00000515652.5:c.680A>C ENSP00000425701.1:p.Gln227Pro
NM_001003841.2:c.772A>C NP_001003841.1:p.Asn258His
NM_001003841.3:c.772A>C MANE Select NP_001003841.1:p.Asn258His