Canonical Allele Identifier: CA2338330397
Gene: EXOC3L2 HGNC NCBI
MARK4 HGNC NCBI

Linked Data

dbSNP Id: rs1247876605
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45237430G>A , CM000681.2:g.45237430G>A GRCh38
NC_000019.9:g.45740688G>A , CM000681.1:g.45740688G>A GRCh37
NC_000019.8:g.50432528G>A NCBI36
NG_054912.1:g.1782C>T
NG_054912.2:g.12978C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000413988.3:c.523+1093C>T (EXOC3L2) MANE Select ENSP00000400713.2:n.523+1093C>T
ENST00000587566.5:c.-276-21559G>A (MARK4) ENSP00000465414.1:n.-276-21559G>A
NM_001382422.1:c.523+1093C>T (EXOC3L2) MANE Select NP_001369351.1:n.523+1093C>T
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