Canonical Allele Identifier: CA3183499
Gene: SLC6A18 HGNC NCBI

Linked Data

dbSNP Id: rs4975623
ExAC: 5:1232491 G / C
gnomAD v2: 5-1232491-G-C
gnomAD v3: 5-1232376-G-C
gnomAD v4: 5-1232376-G-C
MyVariant Identifiers: chr5:g.1232491G>C (hg19) chr5:g.1232376G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1232376G>C , CM000667.2:g.1232376G>C GRCh38
NC_000005.9:g.1232491G>C , CM000667.1:g.1232491G>C GRCh37
NC_000005.8:g.1285491G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000324642.4:c.301+17G>C MANE Select ENSP00000323549.3:n.301+17G>C
ENST00000324642.3:c.301+17G>C ENSP00000323549.3:n.301+17G>C
ENST00000513607.2:n.370+17G>C
NM_182632.2:c.301+17G>C NP_872438.2:n.301+17G>C
NM_182632.3:c.301+17G>C MANE Select NP_872438.2:n.301+17G>C
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