Canonical Allele Identifier: CA2673072318
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v4: 5-1213592-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213592C>G , CM000667.2:g.1213592C>G GRCh38
NC_000005.9:g.1213707C>G , CM000667.1:g.1213707C>G GRCh37
NC_000005.8:g.1266707C>G NCBI36
NG_008282.1:g.16998C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.774+19C>G MANE Select ENSP00000305302.10:n.774+19C>G
ENST00000304460.10:c.774+19C>G ENSP00000305302.10:n.774+19C>G
ENST00000515652.5:c.682+19C>G ENSP00000425701.1:n.682+19C>G
NM_001003841.2:c.774+19C>G NP_001003841.1:n.774+19C>G
NM_001003841.3:c.774+19C>G MANE Select NP_001003841.1:n.774+19C>G
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