Canonical Allele Identifier: CA17854980
Community Standard Title: NM_004565.3(PEX14):c.882C>G (p.Gly294=)
Gene: PEX14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10629735C>G , CM000663.2:g.10629735C>G GRCh38
NC_000001.10:g.10689792C>G , CM000663.1:g.10689792C>G GRCh37
NC_000001.9:g.10612379C>G NCBI36
NG_008340.1:g.159790C>G
NG_008340.2:g.159790C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004565.3:c.882C>G MANE Select NP_004556.1:p.Gly294=
ENST00000356607.9:c.882C>G MANE Select ENSP00000349016.4:p.Gly294=
NM_004565.2:c.882C>G NP_004556.1:p.Gly294=
ENST00000356607.8:c.882C>G ENSP00000349016.4:p.Gly294=
XM_005263470.3:c.690C>G XP_005263527.1:p.Gly230=
XM_005263470.5:c.690C>G XP_005263527.1:p.Gly230=
XM_011541577.1:c.924C>G XP_011539879.1:p.Gly308=
XM_011541577.2:c.924C>G XP_011539879.1:p.Gly308=
XM_011541578.1:c.825C>G XP_011539880.1:p.Gly275=
XM_011541578.2:c.825C>G XP_011539880.1:p.Gly275=
XM_011541579.1:c.795C>G XP_011539881.1:p.Gly265=
XM_011541579.3:c.795C>G XP_011539881.1:p.Gly265=
XM_011541580.1:c.753C>G XP_011539882.1:p.Gly251=
XM_024447651.1:c.690C>G XP_024303419.1:p.Gly230=