Canonical Allele Identifier: CA870425397
Gene: SLC6A14 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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