Canonical Allele Identifier: CA393217660
Community Standard Title: NM_015554.3(GLCE):c.114G>T (p.Gln38His)
Gene: GLCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.69255920G>T , CM000677.2:g.69255920G>T GRCh38
NC_000015.9:g.69548259G>T , CM000677.1:g.69548259G>T GRCh37
NC_000015.8:g.67335313G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_015554.3:c.114G>T MANE Select NP_056369.1:p.Gln38His
ENST00000261858.7:c.114G>T MANE Select ENSP00000261858.2:p.Gln38His
NM_001324091.1:c.114G>T NP_001311020.1:p.Gln38His
NM_001324091.2:c.114G>T NP_001311020.1:p.Gln38His
NM_001324092.1:c.-185-5167G>T NP_001311021.1:n.-185-5167G>T
NM_001324092.2:c.-185-5167G>T NP_001311021.1:n.-185-5167G>T
NM_001324093.1:c.114G>T NP_001311022.1:p.Gln38His
NM_001324093.2:c.114G>T NP_001311022.1:p.Gln38His
NM_001324094.1:c.114G>T NP_001311023.1:p.Gln38His
NM_001324094.2:c.114G>T NP_001311023.1:p.Gln38His
NM_015554.1:c.114G>T NP_056369.1:p.Gln38His
NM_015554.2:c.114G>T NP_056369.1:p.Gln38His
ENST00000261858.6:c.114G>T ENSP00000261858.2:p.Gln38His
ENST00000559420.2:c.-79G>T ENSP00000454092.1:n.-79G>T
XM_005254298.2:c.114G>T XP_005254355.1:p.Gln38His
XM_005254298.3:c.114G>T XP_005254355.1:p.Gln38His
XM_005254299.3:c.114G>T XP_005254356.1:p.Gln38His
XM_017022073.1:c.132G>T XP_016877562.1:p.Gln44His
XM_017022074.2:c.132G>T XP_016877563.1:p.Gln44His