Canonical Allele Identifier: CA443019109
Gene: SLC6A19 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.1213634A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213519A>G , CM000667.2:g.1213519A>G GRCh38
NC_000005.9:g.1213634A>G , CM000667.1:g.1213634A>G GRCh37
NC_000005.8:g.1266634A>G NCBI36
NG_008282.1:g.16925A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.720A>G MANE Select ENSP00000305302.10:p.Arg240=
ENST00000304460.10:c.720A>G ENSP00000305302.10:p.Arg240=
ENST00000515652.5:c.628A>G ENSP00000425701.1:p.Arg210Gly
NM_001003841.2:c.720A>G NP_001003841.1:p.Arg240=
NM_001003841.3:c.720A>G MANE Select NP_001003841.1:p.Arg240=