Canonical Allele Identifier: CA8103079
Gene: EXOC3L1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.67186554A>G
GRCh37 chr16:g.67220457A>G
gnomAD v2:
16:67220457 A / G
gnomAD v3:
16:67186554 A / G
gnomAD v4:
chr16-67186554-A-G
Joint Max Group AF 0.43151513 (AFR)
Genomes Max Group AF 0.42653947 (AFR)
Exomes Max Group AF 0.43403644 (AFR)
dbSNP:
868213
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67186554A>G , CM000678.2:g.67186554A>G GRCh38
NC_000016.9:g.67220457A>G , CM000678.1:g.67220457A>G GRCh37
NC_000016.8:g.65777958A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000314586.11:c.1385+3T>C MANE Select ENSP00000325674.6:n.1385+3T>C
ENST00000314586.10:c.1385+3T>C ENSP00000325674.6:n.1385+3T>C
ENST00000545725.6:c.1076+3T>C ENSP00000439910.2:n.1076+3T>C
ENST00000563889.1:c.1091+3T>C ENSP00000455223.1:n.1091+3T>C
ENST00000564324.5:c.*309+3T>C ENSP00000456435.1:n.*309+3T>C
NM_178516.3:c.1385+3T>C NP_848611.2:n.1385+3T>C
NM_178516.4:c.1385+3T>C MANE Select NP_848611.2:n.1385+3T>C
Search 100 bp 5'
Search 100 bp 3'