Canonical Allele Identifier: CA4029455

Gene: PEX3

Linked Data

• ClinVar Variation Id: 355574
• ClinVar RCV Id: RCV000266248 ; RCV002520408
• dbSNP Id: rs201718910
• ExAC: 6:143780244 T / C
• gnomAD v2: 6-143780244-T-C
• gnomAD v3: 6-143459107-T-C
• gnomAD v4: 6-143459107-T-C
• MyVariant Identifiers: chr6:g.143780244T>C (hg19) ; chr6:g.143459107T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.143459107T>C , CM000668.2:g.143459107T>C	GRCh38
NC_000006.11:g.143780244T>C , CM000668.1:g.143780244T>C	GRCh37
NC_000006.10:g.143821937T>C	NCBI36
NG_008459.1:g.13327T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367591.5:c.96T>C MANE Select	ENSP00000356563.4:p.Tyr32=
ENST00000367591.4:c.96T>C	ENSP00000356563.4:p.Tyr32=
ENST00000367592.5:c.74-3809T>C	ENSP00000356564.1:n.74-3809T>C
NM_003630.2:c.96T>C	NP_003621.1:p.Tyr32=
NM_003630.3:c.96T>C MANE Select	NP_003621.1:p.Tyr32=