Canonical Allele Identifier: CA3183500
Gene: SLC6A18 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000324642.4:c.301+17G>T MANE Select ENSP00000323549.3:n.301+17G>T
ENST00000324642.3:c.301+17G>T ENSP00000323549.3:n.301+17G>T
ENST00000513607.2:n.370+17G>T
NM_182632.2:c.301+17G>T NP_872438.2:n.301+17G>T
NM_182632.3:c.301+17G>T MANE Select NP_872438.2:n.301+17G>T
Search 100 bp 5'
Search 100 bp 3'