Canonical Allele Identifier: CA2056462
Community Standard Title: NM_001044385.3(TMEM237):c.553+1G>A
Gene: TMEM237 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201632050C>T , CM000664.2:g.201632050C>T GRCh38
NC_000002.11:g.202496773C>T , CM000664.1:g.202496773C>T GRCh37
NC_000002.10:g.202205018C>T NCBI36
NG_032049.1:g.16480G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001044385.3:c.553+1G>A MANE Select NP_001037850.1:n.553+1G>A
ENST00000409883.7:c.553+1G>A MANE Select ENSP00000386264.2:n.553+1G>A
NM_001044385.2:c.553+1G>A NP_001037850.1:n.553+1G>A
NM_152388.3:c.529+1G>A NP_689601.2:n.529+1G>A
NM_152388.4:c.529+1G>A NP_689601.2:n.529+1G>A
ENST00000286196.9:c.*117+1G>A ENSP00000286196.5:n.*117+1G>A
ENST00000409444.6:c.529+1G>A ENSP00000387203.2:n.529+1G>A
ENST00000409883.6:c.553+1G>A ENSP00000386264.2:n.553+1G>A
ENST00000432684.6:c.*352+1G>A ENSP00000413230.2:n.*352+1G>A
ENST00000444047.6:c.*363+1G>A ENSP00000402681.2:n.*363+1G>A
ENST00000466641.5:n.251+1G>A
ENST00000471318.6:n.443+1G>A
ENST00000621467.4:c.529+1G>A ENSP00000480508.1:n.529+1G>A
ENST00000621467.5:c.427+1G>A ENSP00000480508.2:n.427+1G>A
ENST00000686475.1:n.493+1G>A