Canonical Allele Identifier: CA17855235
Community Standard Title: NM_004565.3(PEX14):c.1056C>T (p.Gly352=)
Gene: PEX14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10629909C>T , CM000663.2:g.10629909C>T GRCh38
NC_000001.10:g.10689966C>T , CM000663.1:g.10689966C>T GRCh37
NC_000001.9:g.10612553C>T NCBI36
NG_008340.1:g.159964C>T
NG_008340.2:g.159964C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004565.3:c.1056C>T MANE Select NP_004556.1:p.Gly352=
ENST00000356607.9:c.1056C>T MANE Select ENSP00000349016.4:p.Gly352=
NM_004565.2:c.1056C>T NP_004556.1:p.Gly352=
ENST00000356607.8:c.1056C>T ENSP00000349016.4:p.Gly352=
XM_005263470.3:c.864C>T XP_005263527.1:p.Gly288=
XM_005263470.5:c.864C>T XP_005263527.1:p.Gly288=
XM_011541577.1:c.1098C>T XP_011539879.1:p.Gly366=
XM_011541577.2:c.1098C>T XP_011539879.1:p.Gly366=
XM_011541578.1:c.999C>T XP_011539880.1:p.Gly333=
XM_011541578.2:c.999C>T XP_011539880.1:p.Gly333=
XM_011541579.1:c.969C>T XP_011539881.1:p.Gly323=
XM_011541579.3:c.969C>T XP_011539881.1:p.Gly323=
XM_011541580.1:c.927C>T XP_011539882.1:p.Gly309=
XM_024447651.1:c.864C>T XP_024303419.1:p.Gly288=