Canonical Allele Identifier: CA9154876
Community Standard Title: NM_016579.4(CD320):c.7G>A (p.Gly3Ser)
Gene: CD320 HGNC NCBI
ELAVL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8308284C>T , CM000681.2:g.8308284C>T GRCh38
NC_000019.9:g.8373168C>T , CM000681.1:g.8373168C>T GRCh37
NC_000019.8:g.8279168C>T NCBI36
NG_028124.1:g.5073G>A
NG_028213.2:g.18113G>A

Transcript Alleles

HGVS Amino-acid Change
NM_016579.4:c.7G>A (CD320) MANE Select NP_057663.1:p.Gly3Ser
ENST00000301458.10:c.7G>A (CD320) MANE Select ENSP00000301458.4:p.Gly3Ser
NM_001165895.1:c.7G>A (CD320) NP_001159367.1:p.Gly3Ser
NM_001165895.2:c.7G>A (CD320) NP_001159367.1:p.Gly3Ser
NM_016579.3:c.7G>A (CD320) NP_057663.1:p.Gly3Ser
ENST00000301458.9:c.7G>A (CD320) ENSP00000301458.4:p.Gly3Ser
ENST00000351593.9:c.-87-46280G>A (ELAVL1) ENSP00000264073.6:n.-87-46280G>A
ENST00000537716.6:c.7G>A (CD320) ENSP00000437697.1:p.Gly3Ser
ENST00000596002.5:c.7G>A (CD320) ENSP00000471773.1:p.Gly3Ser
ENST00000596246.1:n.73G>A (CD320)
ENST00000598299.1:n.52G>A (CD320)
ENST00000598884.1:c.*216G>A ENSP00000470609.1:n.*216G>A