Canonical Allele Identifier: CA245912

Gene: PEX6

Linked Data

• ClinVar Variation Id: 197656
• ClinVar RCV Id: RCV000178750 ; RCV001852222
• dbSNP Id: rs778025463
• ExAC: 6:42937460 A / G
• gnomAD v2: 6-42937460-A-G
• gnomAD v3: 6-42969722-A-G
• gnomAD v4: 6-42969722-A-G
• MyVariant Identifiers: chr6:g.42937460A>G (hg19) ; chr6:g.42969722A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969722A>G , CM000668.2:g.42969722A>G	GRCh38
NC_000006.11:g.42937460A>G , CM000668.1:g.42937460A>G	GRCh37
NC_000006.10:g.43045438A>G	NCBI36
NG_008370.1:g.14522T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304611.13:c.1313T>C MANE Select	ENSP00000303511.8:p.Leu438Pro
ENST00000244546.4:c.1313T>C	ENSP00000244546.4:p.Leu438Pro
ENST00000304611.12:c.1313T>C	ENSP00000303511.8:p.Leu438Pro
NM_000287.3:c.1313T>C	NP_000278.3:p.Leu438Pro
NM_001316313.1:c.1049T>C	NP_001303242.1:p.Leu350Pro
NR_133009.1:n.1406T>C
XM_011514661.1:c.1229T>C	XP_011512963.1:p.Leu410Pro
XR_926246.1:n.1406T>C
XM_011514661.2:c.1229T>C	XP_011512963.1:p.Leu410Pro
XR_001743466.2:n.2387T>C
NM_000287.4:c.1313T>C MANE Select	NP_000278.3:p.Leu438Pro
NM_001316313.2:c.1049T>C	NP_001303242.1:p.Leu350Pro
NR_133009.2:n.1344T>C