Canonical Allele Identifier: CA631704064
Gene: CD320 HGNC NCBI
ELAVL1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
dbSNP:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8308139C>T , CM000681.2:g.8308139C>T GRCh38
NC_000019.9:g.8373023C>T , CM000681.1:g.8373023C>T GRCh37
NC_000019.8:g.8279023C>T NCBI36
NG_028124.1:g.5218G>A
NG_028213.2:g.18258G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301458.10:c.142+10G>A (CD320) MANE Select ENSP00000301458.4:n.142+10G>A
ENST00000301458.9:c.142+10G>A (CD320) ENSP00000301458.4:n.142+10G>A
ENST00000351593.9:c.-87-46135G>A (ELAVL1) ENSP00000264073.6:n.-87-46135G>A
ENST00000537716.6:c.142+10G>A (CD320) ENSP00000437697.1:n.142+10G>A
ENST00000596002.5:c.142+10G>A (CD320) ENSP00000471773.1:n.142+10G>A
ENST00000596246.1:n.208+10G>A (CD320)
ENST00000598299.1:n.187+10G>A (CD320)
ENST00000599573.1:c.123+10G>A (CD320)
NM_001165895.1:c.142+10G>A (CD320) NP_001159367.1:n.142+10G>A
NM_016579.3:c.142+10G>A (CD320) NP_057663.1:n.142+10G>A
NM_016579.4:c.142+10G>A (CD320) MANE Select NP_057663.1:n.142+10G>A
NM_001165895.2:c.142+10G>A (CD320) NP_001159367.1:n.142+10G>A