Canonical Allele Identifier: CA399138285

Gene: PEX12

Linked Data

• MyVariant Identifiers: chr17:g.33904372A>C (hg19) ; chr17:g.35577353A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.35577353A>C , CM000679.2:g.35577353A>C	GRCh38
NC_000017.10:g.33904372A>C , CM000679.1:g.33904372A>C	GRCh37
NC_000017.9:g.30928485A>C	NCBI36
NG_008447.1:g.6285T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225873.9:c.365T>G MANE Select	ENSP00000225873.3:p.Leu122Arg
ENST00000586663.2:c.365T>G	ENSP00000466894.2:p.Leu122Arg
ENST00000225873.8:c.365T>G	ENSP00000225873.3:p.Leu122Arg
ENST00000585380.1:c.365T>G	ENSP00000466280.1:p.Leu122Arg
ENST00000586663.1:c.365T>G	ENSP00000466894.1:p.Leu122Arg
ENST00000613219.4:c.365T>G	ENSP00000482609.1:p.Leu122Arg
NM_000286.2:c.365T>G	NP_000277.1:p.Leu122Arg
NM_000286.3:c.365T>G MANE Select	NP_000277.1:p.Leu122Arg