Canonical Allele Identifier: CA384626500
Community Standard Title: NM_033124.5(CCDC65):c.470+1G>A
Gene: CCDC65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48914574G>A , CM000674.2:g.48914574G>A GRCh38
NC_000012.11:g.49308357G>A , CM000674.1:g.49308357G>A GRCh37
NC_000012.10:g.47594624G>A NCBI36
NG_033837.1:g.15465G>A

Transcript Alleles

HGVS Amino-acid Change
NM_033124.5:c.470+1G>A MANE Select NP_149115.2:n.470+1G>A
ENST00000320516.5:c.470+1G>A MANE Select ENSP00000312706.4:n.470+1G>A
NM_001286957.1:c.41+1G>A NP_001273886.1:n.41+1G>A
NM_001286957.2:c.41+1G>A NP_001273886.1:n.41+1G>A
NM_033124.4:c.470+1G>A NP_149115.2:n.470+1G>A
ENST00000266984.9:c.470+1G>A ENSP00000266984.5:n.470+1G>A
ENST00000320516.4:c.470+1G>A ENSP00000312706.4:n.470+1G>A
ENST00000398092.4:c.385-10666C>T ENSP00000438507.1:n.385-10666C>T
ENST00000547861.5:c.*301+1G>A ENSP00000447157.1:n.*301+1G>A
ENST00000552942.5:c.301-3701G>A ENSP00000446569.1:n.301-3701G>A
XM_011538908.1:c.470+1G>A XP_011537210.1:n.470+1G>A