Canonical Allele Identifier: CA138222171
Community Standard Title: NM_000287.4(PEX6):c.2472-2A>G
Gene: PEX6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42965370T>C , CM000668.2:g.42965370T>C GRCh38
NC_000006.11:g.42933108T>C , CM000668.1:g.42933108T>C GRCh37
NC_000006.10:g.43041086T>C NCBI36
NG_008370.1:g.18874A>G
NG_008396.1:g.9609T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000287.4:c.2472-2A>G MANE Select NP_000278.3:n.2472-2A>G
ENST00000304611.13:c.2472-2A>G MANE Select ENSP00000303511.8:n.2472-2A>G
NM_000287.3:c.2472-2A>G NP_000278.3:n.2472-2A>G
NM_001316313.1:c.2208-2A>G NP_001303242.1:n.2208-2A>G
NM_001316313.2:c.2208-2A>G NP_001303242.1:n.2208-2A>G
NR_133009.1:n.2318-2A>G
NR_133009.2:n.2256-2A>G
ENST00000244546.4:c.2225-2A>G ENSP00000244546.4:n.2225-2A>G
ENST00000304611.12:c.2472-2A>G ENSP00000303511.8:n.2472-2A>G
XM_011514661.1:c.2388-2A>G XP_011512963.1:n.2388-2A>G
XM_011514661.2:c.2388-2A>G XP_011512963.1:n.2388-2A>G
XR_001743466.2:n.3434-2A>G