Canonical Allele Identifier: CA2445595
Gene: GLT8D1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.52694788C>T
GRCh37 chr3:g.52728804C>T
Revel Score:
ENST00000394786 0.014
gnomAD v2:
3:52728804 C / T
gnomAD v3:
3:52694788 C / T
gnomAD v4:
chr3-52694788-C-T
Joint Max Group AF 0.49607896 (AMR)
Genomes Max Group AF 0.44770498 (AMR)
Exomes Max Group AF 0.51072177 (AMR)
ClinVar Allele:
1217204
ClinVar RCV:
RCV001615499
ClinVar Variation:
1224650
dbSNP:
6976
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52694788C>T , CM000665.2:g.52694788C>T GRCh38
NC_000003.11:g.52728804C>T , CM000665.1:g.52728804C>T GRCh37
NC_000003.10:g.52703844C>T NCBI36
NG_027871.1:g.13869C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266014.11:c.*57G>A MANE Select ENSP00000266014.5:n.*57G>A
ENST00000266014.9:c.*57G>A ENSP00000266014.5:n.*57G>A
ENST00000394783.7:c.*57G>A ENSP00000378263.3:n.*57G>A
ENST00000407584.7:c.661G>A ENSP00000385730.4:p.Val221Met
ENST00000478968.6:c.*57G>A ENSP00000419612.2:n.*57G>A
ENST00000481643.5:c.680G>A ENSP00000418300.1:n.680G>A
ENST00000491606.5:c.*57G>A ENSP00000418853.1:n.*57G>A
NM_001010983.2:c.*57G>A NP_001010983.1:n.*57G>A
NM_001278280.1:c.*57G>A NP_001265209.1:n.*57G>A
NM_001278281.1:c.*57G>A NP_001265210.1:n.*57G>A
NM_018446.3:c.*57G>A NP_060916.1:n.*57G>A
NM_152932.2:c.*57G>A NP_690909.1:n.*57G>A
XR_002959551.1:n.2408G>A
NM_001010983.3:c.*57G>A NP_001010983.1:n.*57G>A
NM_001278280.2:c.*57G>A NP_001265209.1:n.*57G>A
NM_001278281.2:c.*57G>A NP_001265210.1:n.*57G>A
NM_018446.4:c.*57G>A MANE Select NP_060916.1:n.*57G>A
NM_152932.3:c.*57G>A NP_690909.1:n.*57G>A
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