Canonical Allele Identifier: CA359067728
Gene: SLC6A19 HGNC NCBI

Linked Data

COSMIC: COSM5402001
MyVariant Identifiers: chr5:g.1213663G>A (hg19) chr5:g.1213548G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213548G>A , CM000667.2:g.1213548G>A GRCh38
NC_000005.9:g.1213663G>A , CM000667.1:g.1213663G>A GRCh37
NC_000005.8:g.1266663G>A NCBI36
NG_008282.1:g.16954G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.749G>A MANE Select ENSP00000305302.10:p.Gly250Asp
ENST00000304460.10:c.749G>A ENSP00000305302.10:p.Gly250Asp
ENST00000515652.5:c.657G>A ENSP00000425701.1:p.Trp219Ter
NM_001003841.2:c.749G>A NP_001003841.1:p.Gly250Asp
NM_001003841.3:c.749G>A MANE Select NP_001003841.1:p.Gly250Asp
Search 100 bp 5'
Search 100 bp 3'