Canonical Allele Identifier: CA2503399857
Gene: EXOC3L2 HGNC NCBI
MARK4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45237448C>T , CM000681.2:g.45237448C>T GRCh38
NC_000019.9:g.45740706C>T , CM000681.1:g.45740706C>T GRCh37
NC_000019.8:g.50432546C>T NCBI36
NG_054912.1:g.1764G>A
NG_054912.2:g.12960G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000413988.3:c.523+1075G>A (EXOC3L2) MANE Select ENSP00000400713.2:n.523+1075G>A
ENST00000587566.5:c.-276-21541C>T (MARK4) ENSP00000465414.1:n.-276-21541C>T
NM_001382422.1:c.523+1075G>A (EXOC3L2) MANE Select NP_001369351.1:n.523+1075G>A
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