Canonical Allele Identifier: CA914605048
Gene: MAPRE1 HGNC NCBI

Linked Data

dbSNP Id: rs1568874566
gnomAD v2: 20-31410285-G-C
gnomAD v3: 20-32822479-G-C
gnomAD v4: 20-32822479-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32822479G>C , CM000682.2:g.32822479G>C GRCh38
NC_000020.10:g.31410285G>C , CM000682.1:g.31410285G>C GRCh37
NC_000020.9:g.30873946G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000375571.6:c.-4+2451G>C MANE Select ENSP00000364721.5:n.-4+2451G>C
ENST00000375571.5:c.-4+2451G>C ENSP00000364721.5:n.-4+2451G>C
NM_012325.2:c.-4+2451G>C NP_036457.1:n.-4+2451G>C
XM_011528696.1:c.-4+2562G>C XP_011526998.1:n.-4+2562G>C
XM_011528696.2:c.-4+2562G>C XP_011526998.1:n.-4+2562G>C
NM_012325.3:c.-4+2451G>C MANE Select NP_036457.1:n.-4+2451G>C
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