Canonical Allele Identifier: CA996282062
Gene: EXOC3L2 HGNC NCBI
MARK4 HGNC NCBI

Linked Data

dbSNP Id: rs939022302
gnomAD v3: 19-45237415-T-C
gnomAD v4: 19-45237415-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45237415T>C , CM000681.2:g.45237415T>C GRCh38
NC_000019.9:g.45740673T>C , CM000681.1:g.45740673T>C GRCh37
NC_000019.8:g.50432513T>C NCBI36
NG_054912.1:g.1797A>G
NG_054912.2:g.12993A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000413988.3:c.523+1108A>G (EXOC3L2) MANE Select ENSP00000400713.2:n.523+1108A>G
ENST00000587566.5:c.-276-21574T>C (MARK4) ENSP00000465414.1:n.-276-21574T>C
NM_001382422.1:c.523+1108A>G (EXOC3L2) MANE Select NP_001369351.1:n.523+1108A>G
Search 100 bp 5'
Search 100 bp 3'