Canonical Allele Identifier: CA3183339
Gene: SLC6A18 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.1225449T>C
GRCh37 chr5:g.1225564T>C
gnomAD v2:
5:1225564 T / C
gnomAD v3:
5:1225449 T / C
gnomAD v4:
chr5-1225449-T-C
Joint Max Group AF 0.79224714 (AFR)
Genomes Max Group AF 0.78912618 (AFR)
Exomes Max Group AF 0.79118343 (AFR)
dbSNP:
7728646
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1225449T>C , CM000667.2:g.1225449T>C GRCh38
NC_000005.9:g.1225564T>C , CM000667.1:g.1225564T>C GRCh37
NC_000005.8:g.1278564T>C NCBI36
NG_008282.1:g.28855T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000324642.4:c.-29T>C MANE Select ENSP00000323549.3:n.-29T>C
ENST00000324642.3:c.-29T>C ENSP00000323549.3:n.-29T>C
ENST00000513607.2:n.41T>C
NM_182632.2:c.-29T>C NP_872438.2:n.-29T>C
NM_182632.3:c.-29T>C MANE Select NP_872438.2:n.-29T>C
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