Canonical Allele Identifier: CA1016995490
Gene: MAPRE1 HGNC NCBI

Linked Data

dbSNP Id: rs1982727759
gnomAD v3: 20-32822450-A-G
gnomAD v4: 20-32822450-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32822450A>G , CM000682.2:g.32822450A>G GRCh38
NC_000020.10:g.31410256A>G , CM000682.1:g.31410256A>G GRCh37
NC_000020.9:g.30873917A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000375571.6:c.-4+2422A>G MANE Select ENSP00000364721.5:n.-4+2422A>G
ENST00000375571.5:c.-4+2422A>G ENSP00000364721.5:n.-4+2422A>G
NM_012325.2:c.-4+2422A>G NP_036457.1:n.-4+2422A>G
XM_011528696.1:c.-4+2533A>G XP_011526998.1:n.-4+2533A>G
XM_011528696.2:c.-4+2533A>G XP_011526998.1:n.-4+2533A>G
NM_012325.3:c.-4+2422A>G MANE Select NP_036457.1:n.-4+2422A>G
Search 100 bp 5'
Search 100 bp 3'