Canonical Allele Identifier: CA443019071
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v4: 5-1213489-C-G
COSMIC: COSM735914
MyVariant Identifiers: chr5:g.1213604C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213489C>G , CM000667.2:g.1213489C>G GRCh38
NC_000005.9:g.1213604C>G , CM000667.1:g.1213604C>G GRCh37
NC_000005.8:g.1266604C>G NCBI36
NG_008282.1:g.16895C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.690C>G MANE Select ENSP00000305302.10:p.Pro230=
ENST00000304460.10:c.690C>G ENSP00000305302.10:p.Pro230=
ENST00000515652.5:c.598C>G ENSP00000425701.1:p.Leu200Val
NM_001003841.2:c.690C>G NP_001003841.1:p.Pro230=
NM_001003841.3:c.690C>G MANE Select NP_001003841.1:p.Pro230=
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