Canonical Allele Identifier: CA2578258785
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v4: 5-1213672-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213672G>A , CM000667.2:g.1213672G>A GRCh38
NC_000005.9:g.1213787G>A , CM000667.1:g.1213787G>A GRCh37
NC_000005.8:g.1266787G>A NCBI36
NG_008282.1:g.17078G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.774+99G>A MANE Select ENSP00000305302.10:n.774+99G>A
ENST00000304460.10:c.774+99G>A ENSP00000305302.10:n.774+99G>A
ENST00000515652.5:c.682+99G>A ENSP00000425701.1:n.682+99G>A
NM_001003841.2:c.774+99G>A NP_001003841.1:n.774+99G>A
NM_001003841.3:c.774+99G>A MANE Select NP_001003841.1:n.774+99G>A
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