Canonical Allele Identifier: CA443019095
Gene: SLC6A19 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.1213628C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213513C>G , CM000667.2:g.1213513C>G GRCh38
NC_000005.9:g.1213628C>G , CM000667.1:g.1213628C>G GRCh37
NC_000005.8:g.1266628C>G NCBI36
NG_008282.1:g.16919C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.714C>G MANE Select ENSP00000305302.10:p.Leu238=
ENST00000304460.10:c.714C>G ENSP00000305302.10:p.Leu238=
ENST00000515652.5:c.622C>G ENSP00000425701.1:p.His208Asp
NM_001003841.2:c.714C>G NP_001003841.1:p.Leu238=
NM_001003841.3:c.714C>G MANE Select NP_001003841.1:p.Leu238=