Canonical Allele Identifier: CA221590602
Gene: SLC35C1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.45812564C>T
GRCh37 chr11:g.45834115C>T
gnomAD v2:
11:45834115 C / T
gnomAD v3:
11:45812564 C / T
gnomAD v4:
chr11-45812564-C-T
Joint Max Group AF 0.00003677 (NFE)
Genomes Max Group AF 0.00004765 (NFE)
Exomes Max Group AF 0.0000203 (NFE)
ClinVar RCV:
RCV001108651
ClinVar Variation:
880390
dbSNP:
938496129
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45812564C>T , CM000673.2:g.45812564C>T GRCh38
NC_000011.9:g.45834115C>T , CM000673.1:g.45834115C>T GRCh37
NC_000011.8:g.45790691C>T NCBI36
NG_009875.1:g.13493C>T , LRG_107:g.13493C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526817.2:c.*1229C>T ENSP00000432145.2:n.*1229C>T
ENST00000314134.4:c.*1229C>T MANE Select ENSP00000313318.3:n.*1229C>T
ENST00000314134.3:c.*1229C>T ENSP00000313318.3:n.*1229C>T
NM_001145265.1:c.*1229C>T NP_001138737.1:n.*1229C>T
NM_001145266.1:c.*1229C>T NP_001138738.1:n.*1229C>T
NM_018389.4:c.*1229C>T , LRG_107t1:c.*1229C>T NP_060859.4:n.*1229C>T
XM_011520202.1:c.*1229C>T XP_011518504.1:n.*1229C>T
XM_011520202.2:c.*1229C>T XP_011518504.1:n.*1229C>T
NM_001145265.2:c.*1229C>T NP_001138737.1:n.*1229C>T
NM_018389.5:c.*1229C>T MANE Select NP_060859.4:n.*1229C>T
Search 100 bp 5'
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