Canonical Allele Identifier: CA557555551
Gene: SLC6A18 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.1232376G>A
GRCh37 chr5:g.1232491G>A
gnomAD v2:
5:1232491 G / A
gnomAD v4:
chr5-1232376-G-A
Joint Max Group AF 0.00000562 (AMR)
Exomes Max Group AF 0.00000758 (AMR)
dbSNP:
4975623
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000324642.4:c.301+17G>A MANE Select ENSP00000323549.3:n.301+17G>A
ENST00000324642.3:c.301+17G>A ENSP00000323549.3:n.301+17G>A
ENST00000513607.2:n.370+17G>A
NM_182632.2:c.301+17G>A NP_872438.2:n.301+17G>A
NM_182632.3:c.301+17G>A MANE Select NP_872438.2:n.301+17G>A
Search 100 bp 5'
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