Canonical Allele Identifier: CA241469

Gene: PEX13

Linked Data

• ClinVar Variation Id: 195174
• ClinVar RCV Id: RCV000175727 ; RCV000879718 ; RCV003480075 ; RCV004552975
• dbSNP Id: rs150161574
• ExAC: 2:61258690 T / A
• gnomAD v2: 2-61258690-T-A
• gnomAD v3: 2-61031555-T-A
• gnomAD v4: 2-61031555-T-A
• MyVariant Identifiers: chr2:g.61258690T>A (hg19) ; chr2:g.61031555T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.61031555T>A , CM000664.2:g.61031555T>A	GRCh38
NC_000002.11:g.61258690T>A , CM000664.1:g.61258690T>A	GRCh37
NC_000002.10:g.61112194T>A	NCBI36
NG_008665.1:g.18879T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295030.6:c.229T>A MANE Select	ENSP00000295030.4:p.Ser77Thr
ENST00000295030.5:c.229T>A	ENSP00000295030.4:p.Ser77Thr
ENST00000472678.1:n.292T>A
NM_002618.3:c.229T>A	NP_002609.1:p.Ser77Thr
XM_011532904.1:c.112T>A	XP_011531206.1:p.Ser38Thr
NM_002618.4:c.229T>A MANE Select	NP_002609.1:p.Ser77Thr