Canonical Allele Identifier: CA359067766
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs143099885
gnomAD v3: 5-1213557-T-G
gnomAD v4: 5-1213557-T-G
MyVariant Identifiers: chr5:g.1213672T>G (hg19) chr5:g.1213557T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213557T>G , CM000667.2:g.1213557T>G GRCh38
NC_000005.9:g.1213672T>G , CM000667.1:g.1213672T>G GRCh37
NC_000005.8:g.1266672T>G NCBI36
NG_008282.1:g.16963T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.758T>G MANE Select ENSP00000305302.10:p.Phe253Cys
ENST00000304460.10:c.758T>G ENSP00000305302.10:p.Phe253Cys
ENST00000515652.5:c.666T>G ENSP00000425701.1:p.Leu222=
NM_001003841.2:c.758T>G NP_001003841.1:p.Phe253Cys
NM_001003841.3:c.758T>G MANE Select NP_001003841.1:p.Phe253Cys
Search 100 bp 5'
Search 100 bp 3'