Canonical Allele Identifier: CA1072491824
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1212955-G-C
gnomAD v4: 5-1212955-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1212955G>C , CM000667.2:g.1212955G>C GRCh38
NC_000005.9:g.1213070G>C , CM000667.1:g.1213070G>C GRCh37
NC_000005.8:g.1266070G>C NCBI36
NG_008282.1:g.16361G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.663+471G>C MANE Select ENSP00000305302.10:n.663+471G>C
ENST00000304460.10:c.663+471G>C ENSP00000305302.10:n.663+471G>C
ENST00000515652.5:c.571+471G>C ENSP00000425701.1:n.571+471G>C
NM_001003841.2:c.663+471G>C NP_001003841.1:n.663+471G>C
NM_001003841.3:c.663+471G>C MANE Select NP_001003841.1:n.663+471G>C
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