Canonical Allele Identifier: CA3811354

Gene: PEX6

Linked Data

• dbSNP Id: rs370022650
• ExAC: 6:42937385 T / G
• gnomAD v2: 6-42937385-T-G
• gnomAD v3: 6-42969647-T-G
• gnomAD v4: 6-42969647-T-G
• MyVariant Identifiers: chr6:g.42937385T>G (hg19) ; chr6:g.42969647T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969647T>G , CM000668.2:g.42969647T>G	GRCh38
NC_000006.11:g.42937385T>G , CM000668.1:g.42937385T>G	GRCh37
NC_000006.10:g.43045363T>G	NCBI36
NG_008370.1:g.14597A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304611.13:c.1367+21A>C MANE Select	ENSP00000303511.8:n.1367+21A>C
ENST00000244546.4:c.1367+21A>C	ENSP00000244546.4:n.1367+21A>C
ENST00000304611.12:c.1367+21A>C	ENSP00000303511.8:n.1367+21A>C
NM_000287.3:c.1367+21A>C	NP_000278.3:n.1367+21A>C
NM_001316313.1:c.1103+21A>C	NP_001303242.1:n.1103+21A>C
NR_133009.1:n.1460+21A>C
XM_011514661.1:c.1283+21A>C	XP_011512963.1:n.1283+21A>C
XR_926246.1:n.1460+21A>C
XM_011514661.2:c.1283+21A>C	XP_011512963.1:n.1283+21A>C
XR_001743466.2:n.2441+21A>C
NM_000287.4:c.1367+21A>C MANE Select	NP_000278.3:n.1367+21A>C
NM_001316313.2:c.1103+21A>C	NP_001303242.1:n.1103+21A>C
NR_133009.2:n.1398+21A>C