Canonical Allele Identifier: CA308938190
Gene: EXOC3L2 HGNC NCBI
MARK4 HGNC NCBI

Linked Data

dbSNP Id: rs991884651
MyVariant Identifiers: chr19:g.45740717C>T (hg19) chr19:g.45237459C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45237459C>T , CM000681.2:g.45237459C>T GRCh38
NC_000019.9:g.45740717C>T , CM000681.1:g.45740717C>T GRCh37
NC_000019.8:g.50432557C>T NCBI36
NG_054912.1:g.1753G>A
NG_054912.2:g.12949G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000413988.3:c.523+1064G>A (EXOC3L2) MANE Select ENSP00000400713.2:n.523+1064G>A
ENST00000587566.5:c.-276-21530C>T (MARK4) ENSP00000465414.1:n.-276-21530C>T
NM_001382422.1:c.523+1064G>A (EXOC3L2) MANE Select NP_001369351.1:n.523+1064G>A
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