Canonical Allele Identifier: CA9154690
Gene: CD320 HGNC NCBI
ELAVL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 377632
ClinVar RCV Id: RCV000427883 RCV000949043 RCV003884520
dbSNP Id: rs79658260
ExAC: 19:8367845 C / A
gnomAD v2: 19-8367845-C-A
gnomAD v3: 19-8302961-C-A
gnomAD v4: 19-8302961-C-A
MyVariant Identifiers: chr19:g.8367845C>A (hg19) chr19:g.8302961C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8302961C>A , CM000681.2:g.8302961C>A GRCh38
NC_000019.9:g.8367845C>A , CM000681.1:g.8367845C>A GRCh37
NC_000019.8:g.8273845C>A NCBI36
NG_028124.1:g.10396G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301458.10:c.522G>T (CD320) MANE Select ENSP00000301458.4:p.Pro174=
ENST00000301458.9:c.522G>T (CD320) ENSP00000301458.4:p.Pro174=
ENST00000351593.9:c.-87-40957G>T (ELAVL1) ENSP00000264073.6:n.-87-40957G>T
ENST00000537716.6:c.396G>T (CD320) ENSP00000437697.1:p.Pro132=
ENST00000596002.5:c.*810G>T (CD320) ENSP00000471773.1:n.*810G>T
ENST00000599573.1:c.388G>T (CD320)
NM_001165895.1:c.396G>T (CD320) NP_001159367.1:p.Pro132=
NM_016579.3:c.522G>T (CD320) NP_057663.1:p.Pro174=
NM_016579.4:c.522G>T (CD320) MANE Select NP_057663.1:p.Pro174=
NM_001165895.2:c.396G>T (CD320) NP_001159367.1:p.Pro132=
Search 100 bp 5'
Search 100 bp 3'