Canonical Allele Identifier: CA1954925127
Gene: PLEKHA7 HGNC NCBI

Linked Data

dbSNP Id: rs11024097

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.16977482C>A , CM000673.2:g.16977482C>A GRCh38
NC_000011.9:g.16999029C>A , CM000673.1:g.16999029C>A GRCh37
NC_000011.8:g.16955605C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000698836.1:c.221+36507G>T ENSP00000513972.1:n.221+36507G>T
ENST00000531066.6:c.221+36507G>T MANE Select ENSP00000435389.1:n.221+36507G>T
ENST00000355661.7:c.221+36507G>T ENSP00000347883.2:n.221+36507G>T
ENST00000529213.1:n.265+35596G>T
ENST00000531066.5:c.221+36507G>T ENSP00000435389.1:n.221+36507G>T
ENST00000532079.1:c.81+36661G>T ENSP00000434812.1:n.81+36661G>T
NM_175058.4:c.221+36507G>T NP_778228.3:n.221+36507G>T
XM_006718149.2:c.221+36507G>T XP_006718212.1:n.221+36507G>T
XM_011519912.1:c.17+34814G>T XP_011518214.1:n.17+34814G>T
XM_011519913.1:c.167+35760G>T XP_011518215.1:n.167+35760G>T
XM_011519914.1:c.221+36507G>T XP_011518216.1:n.221+36507G>T
XM_011519916.1:c.167+35760G>T XP_011518218.1:n.167+35760G>T
NM_001329630.1:c.221+36507G>T NP_001316559.1:n.221+36507G>T
NM_001329631.1:c.221+36507G>T NP_001316560.1:n.221+36507G>T
XM_017017241.2:c.221+36507G>T XP_016872730.1:n.221+36507G>T
XM_017017242.2:c.221+36507G>T XP_016872731.1:n.221+36507G>T
XM_024448356.1:c.221+36507G>T XP_024304124.1:n.221+36507G>T
XM_024448357.1:c.221+36507G>T XP_024304125.1:n.221+36507G>T
XM_024448358.1:c.221+36507G>T XP_024304126.1:n.221+36507G>T
XM_024448359.1:c.221+36507G>T XP_024304127.1:n.221+36507G>T
XM_024448360.1:c.221+36507G>T XP_024304128.1:n.221+36507G>T
XM_024448363.1:c.221+36507G>T XP_024304131.1:n.221+36507G>T
XM_024448364.1:c.221+36507G>T XP_024304132.1:n.221+36507G>T
XM_024448370.1:c.221+36507G>T XP_024304138.1:n.221+36507G>T
XR_002957126.1:n.243+36507G>T
NM_001329630.2:c.221+36507G>T MANE Select NP_001316559.1:n.221+36507G>T
NM_001329631.2:c.221+36507G>T NP_001316560.1:n.221+36507G>T
NM_175058.5:c.221+36507G>T NP_778228.3:n.221+36507G>T