Canonical Allele Identifier: CA364155688
Gene: PEX6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969720C>G , CM000668.2:g.42969720C>G GRCh38
NC_000006.11:g.42937458C>G , CM000668.1:g.42937458C>G GRCh37
NC_000006.10:g.43045436C>G NCBI36
NG_008370.1:g.14524G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1315G>C MANE Select ENSP00000303511.8:p.Glu439Gln
ENST00000244546.4:c.1315G>C ENSP00000244546.4:p.Glu439Gln
ENST00000304611.12:c.1315G>C ENSP00000303511.8:p.Glu439Gln
NM_000287.3:c.1315G>C NP_000278.3:p.Glu439Gln
NM_001316313.1:c.1051G>C NP_001303242.1:p.Glu351Gln
NR_133009.1:n.1408G>C
XM_011514661.1:c.1231G>C XP_011512963.1:p.Glu411Gln
XR_926246.1:n.1408G>C
XM_011514661.2:c.1231G>C XP_011512963.1:p.Glu411Gln
XR_001743466.2:n.2389G>C
NM_000287.4:c.1315G>C MANE Select NP_000278.3:p.Glu439Gln
NM_001316313.2:c.1051G>C NP_001303242.1:p.Glu351Gln
NR_133009.2:n.1346G>C