Canonical Allele Identifier: CA1673323
Gene: PEX13 HGNC NCBI

Linked Data

dbSNP Id: rs375482108
ExAC: 2:61259068 A / G
gnomAD v2: 2-61259068-A-G
MyVariant Identifiers: chr2:g.61259068A>G (hg19) chr2:g.61031933A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61031933A>G , CM000664.2:g.61031933A>G GRCh38
NC_000002.11:g.61259068A>G , CM000664.1:g.61259068A>G GRCh37
NC_000002.10:g.61112572A>G NCBI36
NG_008665.1:g.19257A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.607A>G MANE Select ENSP00000295030.4:p.Arg203Gly
ENST00000295030.5:c.607A>G ENSP00000295030.4:p.Arg203Gly
NM_002618.3:c.607A>G NP_002609.1:p.Arg203Gly
XM_011532904.1:c.490A>G XP_011531206.1:p.Arg164Gly
NM_002618.4:c.607A>G MANE Select NP_002609.1:p.Arg203Gly
Search 100 bp 5'
Search 100 bp 3'