Canonical Allele Identifier: CA2143910837
Gene: TMEM229B HGNC NCBI
GPHN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67512904T= , CM000676.2:g.67512904T= GRCh38
NC_000014.8:g.67979621T= , CM000676.1:g.67979621T= GRCh37
NC_000014.7:g.67049374T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357461.7:c.-192+2182A= (TMEM229B) ENSP00000350050.2:n.-192+2182A=
ENST00000554278.6:c.-192+20732A= (TMEM229B) ENSP00000452402.2:n.-192+20732A=
ENST00000555994.6:c.-257+2182A= (TMEM229B) ENSP00000452144.2:n.-257+2182A=
ENST00000557006.6:c.-257+2541A= (TMEM229B) ENSP00000451774.1:n.-257+2541A=
ENST00000357461.6:c.-192+2182A= (TMEM229B) ENSP00000350050.2:n.-192+2182A=
ENST00000554278.5:c.-192+20732A= (TMEM229B) ENSP00000452402.1:n.-192+20732A=
ENST00000555638.5:c.-192+2541A= (TMEM229B) ENSP00000452201.1:n.-192+2541A=
ENST00000555994.5:c.-257+2182A= (TMEM229B) ENSP00000452144.1:n.-257+2182A=
ENST00000557006.5:c.-257+2541A= (TMEM229B) ENSP00000451774.1:n.-257+2541A=
ENST00000557779.1:c.-192+2182A= (TMEM229B) ENSP00000452025.1:n.-192+2182A=
NM_182526.2:c.-192+2182A= (TMEM229B) NP_872332.1:n.-192+2182A=
XM_005267374.3:c.-257+2541A= (TMEM229B) XP_005267431.1:n.-257+2541A=
XM_005267375.2:c.-192+2541A= (TMEM229B) XP_005267432.1:n.-192+2541A=
XM_006720062.2:c.-192+20732A= (TMEM229B) XP_006720125.1:n.-192+20732A=
NM_001348544.1:c.-257+2182A= (TMEM229B) NP_001335473.1:n.-257+2182A=
NM_001348546.1:c.-192+20858A= (TMEM229B) NP_001335475.1:n.-192+20858A=
NM_001348547.1:c.-192+20732A= (TMEM229B) NP_001335476.1:n.-192+20732A=
NM_001348548.1:c.-192+2541A= (TMEM229B) NP_001335477.1:n.-192+2541A=
NM_001348549.1:c.-257+2541A= (TMEM229B) NP_001335478.1:n.-257+2541A=
XM_017020925.2:c.1313-222291T= (GPHN) XP_016876414.1:n.1313-222291T=
NM_001348544.2:c.-257+2182A= (TMEM229B) NP_001335473.1:n.-257+2182A=
NM_001348547.2:c.-192+20732A= (TMEM229B) NP_001335476.1:n.-192+20732A=
NM_001348548.2:c.-192+2541A= (TMEM229B) NP_001335477.1:n.-192+2541A=
NM_001348549.2:c.-257+2541A= (TMEM229B) NP_001335478.1:n.-257+2541A=
NM_001348546.2:c.-192+20858A= (TMEM229B) NP_001335475.1:n.-192+20858A=
NM_182526.3:c.-192+2182A= (TMEM229B) NP_872332.1:n.-192+2182A=