Canonical Allele Identifier: CA885384
Community Standard Title: NM_001367561.1(DOCK7):c.5635-47G>A
Gene: DOCK7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.62476203C>T , CM000663.2:g.62476203C>T GRCh38
NC_000001.10:g.62941874C>T , CM000663.1:g.62941874C>T GRCh37
NC_000001.9:g.62714462C>T NCBI36
NG_033073.1:g.217166G>A
NG_033073.2:g.217166G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001367561.1:c.5635-47G>A MANE Select NP_001354490.1:n.5635-47G>A
ENST00000635253.2:c.5635-47G>A MANE Select ENSP00000489124.1:n.5635-47G>A
NM_001271999.1:c.5602-47G>A NP_001258928.1:n.5602-47G>A
NM_001271999.2:c.5602-47G>A NP_001258928.1:n.5602-47G>A
NM_001272000.1:c.5515-47G>A NP_001258929.1:n.5515-47G>A
NM_001272000.2:c.5515-47G>A NP_001258929.1:n.5515-47G>A
NM_001272001.1:c.5509-47G>A NP_001258930.1:n.5509-47G>A
NM_001272001.2:c.5509-47G>A NP_001258930.1:n.5509-47G>A
NM_001330614.1:c.5608-47G>A NP_001317543.1:n.5608-47G>A
NM_001330614.2:c.5608-47G>A NP_001317543.1:n.5608-47G>A
NM_033407.3:c.5542-47G>A NP_212132.2:n.5542-47G>A
NM_033407.4:c.5542-47G>A NP_212132.2:n.5542-47G>A
ENST00000251157.10:c.5608-47G>A ENSP00000251157.6:n.5608-47G>A
ENST00000340370.10:c.5542-47G>A ENSP00000340742.5:n.5542-47G>A
ENST00000454575.6:c.5602-47G>A ENSP00000413583.2:n.5602-47G>A
ENST00000489185.1:n.1306-47G>A
ENST00000634264.1:c.5515-47G>A ENSP00000489284.1:n.5515-47G>A
ENST00000634495.1:n.321-47G>A
ENST00000634495.2:n.1776-47G>A
ENST00000635088.1:c.371-47G>A ENSP00000489412.1:n.371-47G>A
ENST00000635123.1:c.5509-47G>A ENSP00000489499.1:n.5509-47G>A
ENST00000635253.1:c.5635-47G>A ENSP00000489124.1:n.5635-47G>A
ENST00000635983.1:n.5314-47G>A
ENST00000637255.1:c.2902-47G>A ENSP00000490888.1:n.2902-47G>A
ENST00000637487.1:n.38-47G>A
XM_005271292.1:c.5608-47G>A XP_005271349.1:n.5608-47G>A
XM_011542326.1:c.5635-47G>A XP_011540628.1:n.5635-47G>A
XM_011542326.2:c.5635-47G>A XP_011540628.1:n.5635-47G>A
XM_011542327.1:c.5629-47G>A XP_011540629.1:n.5629-47G>A
XM_011542327.2:c.5629-47G>A XP_011540629.1:n.5629-47G>A
XM_011542328.1:c.5620-47G>A XP_011540630.1:n.5620-47G>A
XM_011542328.2:c.5620-47G>A XP_011540630.1:n.5620-47G>A
XM_017002639.1:c.5536-47G>A XP_016858128.1:n.5536-47G>A