Canonical Allele Identifier: CA2678796828
Gene: PEX6 HGNC NCBI

Linked Data

gnomAD v4: 6-42969823-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969823T>C , CM000668.2:g.42969823T>C GRCh38
NC_000006.11:g.42937561T>C , CM000668.1:g.42937561T>C GRCh37
NC_000006.10:g.43045539T>C NCBI36
NG_008370.1:g.14421A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1234-22A>G MANE Select ENSP00000303511.8:n.1234-22A>G
ENST00000244546.4:c.1234-22A>G ENSP00000244546.4:n.1234-22A>G
ENST00000304611.12:c.1234-22A>G ENSP00000303511.8:n.1234-22A>G
NM_000287.3:c.1234-22A>G NP_000278.3:n.1234-22A>G
NM_001316313.1:c.970-22A>G NP_001303242.1:n.970-22A>G
NR_133009.1:n.1327-22A>G
XM_011514661.1:c.1150-22A>G XP_011512963.1:n.1150-22A>G
XR_926246.1:n.1327-22A>G
XM_011514661.2:c.1150-22A>G XP_011512963.1:n.1150-22A>G
XR_001743466.2:n.2308-22A>G
NM_000287.4:c.1234-22A>G MANE Select NP_000278.3:n.1234-22A>G
NM_001316313.2:c.970-22A>G NP_001303242.1:n.970-22A>G
NR_133009.2:n.1265-22A>G