Canonical Allele Identifier: CA145995

Gene: PEX12

Linked Data

• ClinVar Variation Id: 92773
• ClinVar RCV Id: RCV000078560 ; RCV000514867 ; RCV001082581 ; RCV000989844 ; RCV002498379 ; RCV004549498
• dbSNP Id: rs147530802
• ExAC: 17:33904939 T / A
• gnomAD v2: 17-33904939-T-A
• gnomAD v3: 17-35577920-T-A
• gnomAD v4: 17-35577920-T-A
• MyVariant Identifiers: chr17:g.33904939T>A (hg19) ; chr17:g.35577920T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35577920T>A , CM000679.2:g.35577920T>A	GRCh38
NC_000017.10:g.33904939T>A , CM000679.1:g.33904939T>A	GRCh37
NC_000017.9:g.30929052T>A	NCBI36
NG_008447.1:g.5718A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225873.9:c.102A>T MANE Select	ENSP00000225873.3:p.Arg34Ser
ENST00000586663.2:c.102A>T	ENSP00000466894.2:p.Arg34Ser
ENST00000225873.8:c.102A>T	ENSP00000225873.3:p.Arg34Ser
ENST00000585380.1:c.102A>T	ENSP00000466280.1:p.Arg34Ser
ENST00000586663.1:c.102A>T	ENSP00000466894.1:p.Arg34Ser
ENST00000613219.4:c.102A>T	ENSP00000482609.1:p.Arg34Ser
NM_000286.2:c.102A>T	NP_000277.1:p.Arg34Ser
NM_000286.3:c.102A>T MANE Select	NP_000277.1:p.Arg34Ser