Canonical Allele Identifier: CA15818342
Gene: EXOC5 HGNC NCBI

Linked Data

dbSNP Id: rs11851015
gnomAD v2: 14-57669533-A-G
gnomAD v3: 14-57202815-A-G
gnomAD v4: 14-57202815-A-G
MyVariant Identifiers: chr14:g.57669533A>G (hg19) chr14:g.57202815A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.57202815A>G , CM000676.2:g.57202815A>G GRCh38
NC_000014.8:g.57669533A>G , CM000676.1:g.57669533A>G GRCh37
NC_000014.7:g.56739286A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000621441.5:c.*5794T>C MANE Select ENSP00000484855.1:n.*5794T>C
ENST00000413566.6:c.*5794T>C ENSP00000389934.3:n.*5794T>C
ENST00000621441.4:c.*5794T>C ENSP00000484855.1:n.*5794T>C
NM_006544.3:c.*5794T>C NP_006535.1:n.*5794T>C
NM_006544.4:c.*5794T>C MANE Select NP_006535.1:n.*5794T>C
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