Canonical Allele Identifier: CA2143908197
Gene: TMEM229B HGNC NCBI
GPHN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67509087C= , CM000676.2:g.67509087C= GRCh38
NC_000014.8:g.67975804C= , CM000676.1:g.67975804C= GRCh37
NC_000014.7:g.67045557C= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000357461.7:c.-192+5999G= (TMEM229B) ENSP00000350050.2:n.-192+5999G=
ENST00000554278.6:c.-191-21915G= (TMEM229B) ENSP00000452402.2:n.-191-21915G=
ENST00000555994.6:c.-256-5536G= (TMEM229B) ENSP00000452144.2:n.-256-5536G=
ENST00000557006.6:c.-256-5536G= (TMEM229B) ENSP00000451774.1:n.-256-5536G=
ENST00000357461.6:c.-192+5999G= (TMEM229B) ENSP00000350050.2:n.-192+5999G=
ENST00000554278.5:c.-191-21915G= (TMEM229B) ENSP00000452402.1:n.-191-21915G=
ENST00000555638.5:c.-192+6358G= (TMEM229B) ENSP00000452201.1:n.-192+6358G=
ENST00000555994.5:c.-256-5536G= (TMEM229B) ENSP00000452144.1:n.-256-5536G=
ENST00000557006.5:c.-256-5536G= (TMEM229B) ENSP00000451774.1:n.-256-5536G=
ENST00000557779.1:c.-192+5999G= (TMEM229B) ENSP00000452025.1:n.-192+5999G=
NM_182526.2:c.-192+5999G= (TMEM229B) NP_872332.1:n.-192+5999G=
XM_005267374.3:c.-256-5536G= (TMEM229B) XP_005267431.1:n.-256-5536G=
XM_005267375.2:c.-192+6358G= (TMEM229B) XP_005267432.1:n.-192+6358G=
XM_006720062.2:c.-191-21915G= (TMEM229B) XP_006720125.1:n.-191-21915G=
NM_001348544.1:c.-256-5536G= (TMEM229B) NP_001335473.1:n.-256-5536G=
NM_001348546.1:c.-191-21915G= (TMEM229B) NP_001335475.1:n.-191-21915G=
NM_001348547.1:c.-191-21915G= (TMEM229B) NP_001335476.1:n.-191-21915G=
NM_001348548.1:c.-192+6358G= (TMEM229B) NP_001335477.1:n.-192+6358G=
NM_001348549.1:c.-256-5536G= (TMEM229B) NP_001335478.1:n.-256-5536G=
XM_017020925.2:c.1313-226108C= (GPHN) XP_016876414.1:n.1313-226108C=
NM_001348544.2:c.-256-5536G= (TMEM229B) NP_001335473.1:n.-256-5536G=
NM_001348547.2:c.-191-21915G= (TMEM229B) NP_001335476.1:n.-191-21915G=
NM_001348548.2:c.-192+6358G= (TMEM229B) NP_001335477.1:n.-192+6358G=
NM_001348549.2:c.-256-5536G= (TMEM229B) NP_001335478.1:n.-256-5536G=
NM_001348546.2:c.-191-21915G= (TMEM229B) NP_001335475.1:n.-191-21915G=
NM_182526.3:c.-192+5999G= (TMEM229B) NP_872332.1:n.-192+5999G=