Canonical Allele Identifier: CA334741591
Gene: SLC6A14 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.116459133C>G
GRCh37 chrX:g.115590299C>G
gnomAD v2:
X:115590299 C / G
gnomAD v3:
X:116459133 C / G
gnomAD v4:
chrX-116459133-C-G
Joint Max Group AF 0.69244603 (AMR)
Genomes Max Group AF 0.66410216 (AMR)
Exomes Max Group AF 0.71785982 (AMR)
dbSNP:
2011162
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.116459133C>G , CM000685.2:g.116459133C>G GRCh38
NC_000023.10:g.115590299C>G , CM000685.1:g.115590299C>G GRCh37
NC_000023.9:g.115504327C>G NCBI36
NG_021305.2:g.27547C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000598581.3:c.*178C>G MANE Select ENSP00000470801.1:n.*178C>G
ENST00000598581.2:c.*178C>G ENSP00000470801.1:n.*178C>G
NM_007231.4:c.*178C>G NP_009162.1:n.*178C>G
NM_007231.5:c.*178C>G MANE Select NP_009162.1:n.*178C>G
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