Canonical Allele Identifier: CA2581366215
Community Standard Title: NM_001974.5(ADGRE1):c.31+86G>T
Gene: ADGRE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6887725G>T , CM000681.2:g.6887725G>T GRCh38
NC_000019.9:g.6887736G>T , CM000681.1:g.6887736G>T GRCh37
NC_000019.8:g.6838736G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001974.5:c.31+86G>T MANE Select NP_001965.3:n.31+86G>T
ENST00000312053.9:c.31+86G>T MANE Select ENSP00000311545.3:n.31+86G>T
NM_001256252.1:c.31+86G>T NP_001243181.1:n.31+86G>T
NM_001256252.2:c.31+86G>T NP_001243181.1:n.31+86G>T
NM_001256253.1:c.31+86G>T NP_001243182.1:n.31+86G>T
NM_001256253.2:c.31+86G>T NP_001243182.1:n.31+86G>T
NM_001256254.1:c.31+86G>T NP_001243183.1:n.31+86G>T
NM_001256254.2:c.31+86G>T NP_001243183.1:n.31+86G>T
NM_001256255.1:c.31+86G>T NP_001243184.1:n.31+86G>T
NM_001256255.2:c.31+86G>T NP_001243184.1:n.31+86G>T
NM_001974.4:c.31+86G>T NP_001965.3:n.31+86G>T
ENST00000250572.12:c.31+86G>T ENSP00000250572.7:n.31+86G>T
ENST00000312053.8:c.31+86G>T ENSP00000311545.3:n.31+86G>T
ENST00000381404.8:c.31+86G>T ENSP00000370811.4:n.31+86G>T
ENST00000381407.9:c.31+86G>T ENSP00000370814.4:n.31+86G>T
ENST00000450315.7:c.31+86G>T ENSP00000405974.2:n.31+86G>T
XM_011527793.1:c.31+86G>T XP_011526095.1:n.31+86G>T
XM_011527794.1:c.31+86G>T XP_011526096.1:n.31+86G>T